Canonical Allele Identifier: CA229551

Gene: PAH

Linked Data

• ClinVar Variation Id: 102680
• ClinVar RCV Id: RCV000088928 ; RCV001053534 ; RCV003894944
• dbSNP Id: rs80297647
• gnomAD v2: 12-103260441-C-T
• gnomAD v4: 12-102866663-C-T
• MyVariant Identifiers: chr12:g.103260441C>T (hg19) ; chr12:g.102866663C>T (hg38)
• ERepo: CA229551/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102866663C>T , CM000674.2:g.102866663C>T	GRCh38
NC_000012.11:g.103260441C>T , CM000674.1:g.103260441C>T	GRCh37
NC_000012.10:g.101784571C>T	NCBI36
NG_008690.1:g.55940G>A
NG_008690.2:g.96748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.442G>A MANE Select	ENSP00000448059.1:p.Gly148Ser
ENST00000307000.7:c.427G>A	ENSP00000303500.2:p.Gly143Ser
ENST00000549111.5:n.538G>A
ENST00000551988.5:n.530+10799G>A
ENST00000553106.5:c.442G>A	ENSP00000448059.1:p.Gly148Ser
NM_000277.1:c.442G>A	NP_000268.1:p.Gly148Ser
XM_011538422.1:c.442G>A	XP_011536724.1:p.Gly148Ser
NM_000277.2:c.442G>A	NP_000268.1:p.Gly148Ser
NM_001354304.1:c.442G>A	NP_001341233.1:p.Gly148Ser
XM_017019370.2:c.442G>A	XP_016874859.1:p.Gly148Ser
NM_000277.3:c.442G>A MANE Select	NP_000268.1:p.Gly148Ser
NM_001354304.2:c.442G>A	NP_001341233.1:p.Gly148Ser