Canonical Allele Identifier: CA229538

Gene: PAH

Linked Data

• ClinVar Variation Id: 102666
• ClinVar RCV Id: RCV000088914 ; RCV001209954
• dbSNP Id: rs199475572
• gnomAD v4: 12-102877475-T-C
• MyVariant Identifiers: chr12:g.103271253T>C (hg19) ; chr12:g.102877475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877475T>C , CM000674.2:g.102877475T>C	GRCh38
NC_000012.11:g.103271253T>C , CM000674.1:g.103271253T>C	GRCh37
NC_000012.10:g.101795383T>C	NCBI36
NG_008690.1:g.45128A>G
NG_008690.2:g.85936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.428A>G MANE Select	ENSP00000448059.1:p.Asp143Gly
ENST00000307000.7:c.413A>G	ENSP00000303500.2:p.Asp138Gly
ENST00000549111.5:n.524A>G
ENST00000550978.6:c.412A>G
ENST00000551988.5:n.517A>G
ENST00000553106.5:c.428A>G	ENSP00000448059.1:p.Asp143Gly
NM_000277.1:c.428A>G	NP_000268.1:p.Asp143Gly
XM_011538422.1:c.428A>G	XP_011536724.1:p.Asp143Gly
NM_000277.2:c.428A>G	NP_000268.1:p.Asp143Gly
NM_001354304.1:c.428A>G	NP_001341233.1:p.Asp143Gly
XM_017019370.2:c.428A>G	XP_016874859.1:p.Asp143Gly
NM_000277.3:c.428A>G MANE Select	NP_000268.1:p.Asp143Gly
NM_001354304.2:c.428A>G	NP_001341233.1:p.Asp143Gly