Canonical Allele Identifier: CA229711

Gene: PAH

Linked Data

• ClinVar Variation Id: 102800
• ClinVar RCV Id: RCV000089051 ; RCV001215843
• dbSNP Id: rs62507283
• gnomAD v2: 12-103246719-C-A
• gnomAD v3: 12-102852941-C-A
• gnomAD v4: 12-102852941-C-A
• MyVariant Identifiers: chr12:g.103246719C>A (hg19) ; chr12:g.102852941C>A (hg38)
• PubMed: PMID:23891399
• ERepo: CA229711/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852941C>A , CM000674.2:g.102852941C>A	GRCh38
NC_000012.11:g.103246719C>A , CM000674.1:g.103246719C>A	GRCh37
NC_000012.10:g.101770849C>A	NCBI36
NG_008690.1:g.69662G>T
NG_008690.2:g.110470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.716G>T MANE Select	ENSP00000448059.1:p.Gly239Val
ENST00000307000.7:c.701G>T	ENSP00000303500.2:p.Gly234Val
ENST00000549247.6:n.475G>T
ENST00000553106.5:c.716G>T	ENSP00000448059.1:p.Gly239Val
NM_000277.1:c.716G>T	NP_000268.1:p.Gly239Val
XM_011538422.1:c.716G>T	XP_011536724.1:p.Gly239Val
NM_000277.2:c.716G>T	NP_000268.1:p.Gly239Val
NM_001354304.1:c.716G>T	NP_001341233.1:p.Gly239Val
NM_000277.3:c.716G>T MANE Select	NP_000268.1:p.Gly239Val
NM_001354304.2:c.716G>T	NP_001341233.1:p.Gly239Val