Canonical Allele Identifier: CA242473609
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs576260391
gnomAD v2: 12-103248607-C-A
gnomAD v3: 12-102854829-C-A
gnomAD v4: 12-102854829-C-A
MyVariant Identifiers: chr12:g.103248607C>A (hg19) chr12:g.103248607_103248612delinsAAAAAA (hg19) chr12:g.102854829C>A (hg38) chr12:g.102854829_102854834delinsAAAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854829C>A , CM000674.2:g.102854829C>A GRCh38
NC_000012.11:g.103248607C>A , CM000674.1:g.103248607C>A GRCh37
NC_000012.10:g.101772737C>A NCBI36
NG_008690.1:g.67774G>T
NG_008690.2:g.108582G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+307G>T MANE Select ENSP00000448059.1:n.706+307G>T
ENST00000307000.7:c.691+307G>T ENSP00000303500.2:n.691+307G>T
ENST00000549111.5:n.1109G>T
ENST00000553106.5:c.706+307G>T ENSP00000448059.1:n.706+307G>T
NM_000277.1:c.706+307G>T NP_000268.1:n.706+307G>T
XM_011538422.1:c.706+307G>T XP_011536724.1:n.706+307G>T
NM_000277.2:c.706+307G>T NP_000268.1:n.706+307G>T
NM_001354304.1:c.706+307G>T NP_001341233.1:n.706+307G>T
XM_017019370.2:c.707-28G>T XP_016874859.1:n.707-28G>T
NM_000277.3:c.706+307G>T MANE Select NP_000268.1:n.706+307G>T
NM_001354304.2:c.706+307G>T NP_001341233.1:n.706+307G>T
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