Canonical Allele Identifier: CA386302815

Gene: PAH

Linked Data

• dbSNP Id: rs1878259731
• gnomAD v3: 12-102912895-T-A
• gnomAD v4: 12-102912895-T-A
• MyVariant Identifiers: chr12:g.103306673T>A (hg19) ; chr12:g.102912895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912895T>A , CM000674.2:g.102912895T>A	GRCh38
NC_000012.11:g.103306673T>A , CM000674.1:g.103306673T>A	GRCh37
NC_000012.10:g.101830803T>A	NCBI36
NG_008690.1:g.9708A>T
NG_008690.2:g.50516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.64A>T MANE Select	ENSP00000448059.1:p.Thr22Ser
ENST00000307000.7:c.49A>T	ENSP00000303500.2:p.Thr17Ser
ENST00000546844.1:c.64A>T	ENSP00000446658.1:p.Thr22Ser
ENST00000548677.2:n.151A>T
ENST00000549111.5:n.160A>T
ENST00000550978.6:c.48A>T
ENST00000551337.5:c.64A>T	ENSP00000447620.1:p.Thr22Ser
ENST00000551988.5:n.153A>T
ENST00000553106.5:c.64A>T	ENSP00000448059.1:p.Thr22Ser
ENST00000635500.1:n.32A>T
NM_000277.1:c.64A>T	NP_000268.1:p.Thr22Ser
XM_011538422.1:c.64A>T	XP_011536724.1:p.Thr22Ser
NM_000277.2:c.64A>T	NP_000268.1:p.Thr22Ser
NM_001354304.1:c.64A>T	NP_001341233.1:p.Thr22Ser
XM_017019370.2:c.64A>T	XP_016874859.1:p.Thr22Ser
NM_000277.3:c.64A>T MANE Select	NP_000268.1:p.Thr22Ser
NM_001354304.2:c.64A>T	NP_001341233.1:p.Thr22Ser