Canonical Allele Identifier: CA242743326

Gene: PAH

Linked Data

• dbSNP Id: rs969690364
• gnomAD v2: 12-103233891-C-T
• gnomAD v3: 12-102840113-C-T
• gnomAD v4: 12-102840113-C-T
• MyVariant Identifiers: chr12:g.103233891C>T (hg19) ; chr12:g.102840113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840113C>T , CM000674.2:g.102840113C>T	GRCh38
NC_000012.11:g.103233891C>T , CM000674.1:g.103233891C>T	GRCh37
NC_000012.10:g.101758021C>T	NCBI36
NG_008690.1:g.82490G>A
NG_008690.2:g.123298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1315+287G>A MANE Select	ENSP00000448059.1:n.1315+287G>A
ENST00000307000.7:c.1300+287G>A	ENSP00000303500.2:n.1300+287G>A
ENST00000551114.2:n.977+287G>A
ENST00000553106.5:c.1315+287G>A	ENSP00000448059.1:n.1315+287G>A
ENST00000635477.1:c.419+287G>A
ENST00000635528.1:n.830+287G>A
NM_000277.1:c.1315+287G>A	NP_000268.1:n.1315+287G>A
XM_011538422.1:c.1258+287G>A	XP_011536724.1:n.1258+287G>A
NM_000277.2:c.1315+287G>A	NP_000268.1:n.1315+287G>A
NM_001354304.1:c.1315+287G>A	NP_001341233.1:n.1315+287G>A
NM_000277.3:c.1315+287G>A MANE Select	NP_000268.1:n.1315+287G>A
NM_001354304.2:c.1315+287G>A	NP_001341233.1:n.1315+287G>A