Canonical Allele Identifier: CA607154921
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1268131611
gnomAD v2: 12-103248592-CA-C
gnomAD v3: 12-102854814-CA-C
gnomAD v4: 12-102854814-CA-C
MyVariant Identifiers: chr12:g.103248593del (hg19) chr12:g.102854815del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854818del , CM000674.2:g.102854818del GRCh38
NC_000012.11:g.103248596del , CM000674.1:g.103248596del GRCh37
NC_000012.10:g.101772726del NCBI36
NG_008690.1:g.67788del
NG_008690.2:g.108596del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+321del MANE Select ENSP00000448059.1:n.706+321del
ENST00000307000.7:c.691+321del ENSP00000303500.2:n.691+321del
ENST00000549111.5:n.1123del
ENST00000553106.5:c.706+321del ENSP00000448059.1:n.706+321del
NM_000277.1:c.706+321del NP_000268.1:n.706+321del
XM_011538422.1:c.706+321del XP_011536724.1:n.706+321del
NM_000277.2:c.706+321del NP_000268.1:n.706+321del
NM_001354304.1:c.706+321del NP_001341233.1:n.706+321del
XM_017019370.2:c.707-14del XP_016874859.1:n.707-14del
NM_000277.3:c.706+321del MANE Select NP_000268.1:n.706+321del
NM_001354304.2:c.706+321del NP_001341233.1:n.706+321del
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