Canonical Allele Identifier: CA229676

Gene: PAH

Linked Data

• ClinVar Variation Id: 102773
• ClinVar RCV Id: RCV000089023 ; RCV000705590 ; RCV003390791
• dbSNP Id: rs62514933
• ExAC: 12:103248967 C / A
• gnomAD v2: 12-103248967-C-A
• gnomAD v3: 12-102855189-C-A
• gnomAD v4: 12-102855189-C-A
• MyVariant Identifiers: chr12:g.103248967C>A (hg19) ; chr12:g.102855189C>A (hg38)
• ERepo: CA229676/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855189C>A , CM000674.2:g.102855189C>A	GRCh38
NC_000012.11:g.103248967C>A , CM000674.1:g.103248967C>A	GRCh37
NC_000012.10:g.101773097C>A	NCBI36
NG_008690.1:g.67414G>T
NG_008690.2:g.108222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.653G>T MANE Select	ENSP00000448059.1:p.Gly218Val
ENST00000307000.7:c.638G>T	ENSP00000303500.2:p.Gly213Val
ENST00000549111.5:n.749G>T
ENST00000553106.5:c.653G>T	ENSP00000448059.1:p.Gly218Val
NM_000277.1:c.653G>T	NP_000268.1:p.Gly218Val
XM_011538422.1:c.653G>T	XP_011536724.1:p.Gly218Val
NM_000277.2:c.653G>T	NP_000268.1:p.Gly218Val
NM_001354304.1:c.653G>T	NP_001341233.1:p.Gly218Val
XM_017019370.2:c.653G>T	XP_016874859.1:p.Gly218Val
NM_000277.3:c.653G>T MANE Select	NP_000268.1:p.Gly218Val
NM_001354304.2:c.653G>T	NP_001341233.1:p.Gly218Val