Canonical Allele Identifier: CA242471340

Gene: PAH

Linked Data

• dbSNP Id: rs76256705
• gnomAD v2: 12-103246311-C-T
• gnomAD v3: 12-102852533-C-T
• gnomAD v4: 12-102852533-C-T
• MyVariant Identifiers: chr12:g.103246311C>T (hg19) ; chr12:g.102852533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852533C>T , CM000674.2:g.102852533C>T	GRCh38
NC_000012.11:g.103246311C>T , CM000674.1:g.103246311C>T	GRCh37
NC_000012.10:g.101770441C>T	NCBI36
NG_008690.1:g.70070G>A
NG_008690.2:g.110878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+282G>A MANE Select	ENSP00000448059.1:n.842+282G>A
ENST00000307000.7:c.827+282G>A	ENSP00000303500.2:n.827+282G>A
ENST00000549247.6:n.601+282G>A
ENST00000553106.5:c.842+282G>A	ENSP00000448059.1:n.842+282G>A
ENST00000635477.1:c.3+282G>A
NM_000277.1:c.842+282G>A	NP_000268.1:n.842+282G>A
XM_011538422.1:c.842+282G>A	XP_011536724.1:n.842+282G>A
NM_000277.2:c.842+282G>A	NP_000268.1:n.842+282G>A
NM_001354304.1:c.842+282G>A	NP_001341233.1:n.842+282G>A
NM_000277.3:c.842+282G>A MANE Select	NP_000268.1:n.842+282G>A
NM_001354304.2:c.842+282G>A	NP_001341233.1:n.842+282G>A