Canonical Allele Identifier: CA682807252
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1433071470
gnomAD v3: 12-102855471-AAG-A
gnomAD v4: 12-102855471-AAG-A
MyVariant Identifiers: chr12:g.103249250_103249251del (hg19) chr12:g.102855472_102855473del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855475_102855476del , CM000674.2:g.102855475_102855476del GRCh38
NC_000012.11:g.103249253_103249254del , CM000674.1:g.103249253_103249254del GRCh37
NC_000012.10:g.101773383_101773384del NCBI36
NG_008690.1:g.67130_67131del
NG_008690.2:g.107938_107939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-141_510-140del MANE Select ENSP00000448059.1:n.510-141_510-140del
ENST00000307000.7:c.495-141_495-140del ENSP00000303500.2:n.495-141_495-140del
ENST00000549111.5:n.606-141_606-140del
ENST00000551988.5:n.531-141_531-140del
ENST00000553106.5:c.510-141_510-140del ENSP00000448059.1:n.510-141_510-140del
NM_000277.1:c.510-141_510-140del NP_000268.1:n.510-141_510-140del
XM_011538422.1:c.510-141_510-140del XP_011536724.1:n.510-141_510-140del
NM_000277.2:c.510-141_510-140del NP_000268.1:n.510-141_510-140del
NM_001354304.1:c.510-141_510-140del NP_001341233.1:n.510-141_510-140del
XM_017019370.2:c.510-141_510-140del XP_016874859.1:n.510-141_510-140del
NM_000277.3:c.510-141_510-140del MANE Select NP_000268.1:n.510-141_510-140del
NM_001354304.2:c.510-141_510-140del NP_001341233.1:n.510-141_510-140del
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