Canonical Allele Identifier: CA386492990

Gene: PAH

Linked Data

• gnomAD v4: 12-102840438-T-C
• MyVariant Identifiers: chr12:g.103234216T>C (hg19) ; chr12:g.102840438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840438T>C , CM000674.2:g.102840438T>C	GRCh38
NC_000012.11:g.103234216T>C , CM000674.1:g.103234216T>C	GRCh37
NC_000012.10:g.101758346T>C	NCBI36
NG_008690.1:g.82165A>G
NG_008690.2:g.122973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1277A>G MANE Select	ENSP00000448059.1:p.Asn426Ser
ENST00000307000.7:c.1262A>G	ENSP00000303500.2:p.Asn421Ser
ENST00000551114.2:n.939A>G
ENST00000553106.5:c.1277A>G	ENSP00000448059.1:p.Asn426Ser
ENST00000635477.1:c.381A>G
ENST00000635528.1:n.792A>G
NM_000277.1:c.1277A>G	NP_000268.1:p.Asn426Ser
XM_011538422.1:c.1220A>G	XP_011536724.1:p.Asn407Ser
NM_000277.2:c.1277A>G	NP_000268.1:p.Asn426Ser
NM_001354304.1:c.1277A>G	NP_001341233.1:p.Asn426Ser
NM_000277.3:c.1277A>G MANE Select	NP_000268.1:p.Asn426Ser
NM_001354304.2:c.1277A>G	NP_001341233.1:p.Asn426Ser