Canonical Allele Identifier: CA481375392

Gene: PAH

Linked Data

• dbSNP Id: rs771382634
• gnomAD v2: 12-103234278-T-A
• gnomAD v4: 12-102840500-T-A
• MyVariant Identifiers: chr12:g.103234278T>A (hg19) ; chr12:g.102840500T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840500T>A , CM000674.2:g.102840500T>A	GRCh38
NC_000012.11:g.103234278T>A , CM000674.1:g.103234278T>A	GRCh37
NC_000012.10:g.101758408T>A	NCBI36
NG_008690.1:g.82103A>T
NG_008690.2:g.122911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1215A>T MANE Select	ENSP00000448059.1:p.Thr405=
ENST00000307000.7:c.1200A>T	ENSP00000303500.2:p.Thr400=
ENST00000551114.2:n.877A>T
ENST00000553106.5:c.1215A>T	ENSP00000448059.1:p.Thr405=
ENST00000635477.1:c.319A>T
ENST00000635528.1:n.730A>T
NM_000277.1:c.1215A>T	NP_000268.1:p.Thr405=
XM_011538422.1:c.1158A>T	XP_011536724.1:p.Thr386=
NM_000277.2:c.1215A>T	NP_000268.1:p.Thr405=
NM_001354304.1:c.1215A>T	NP_001341233.1:p.Thr405=
NM_000277.3:c.1215A>T MANE Select	NP_000268.1:p.Thr405=
NM_001354304.2:c.1215A>T	NP_001341233.1:p.Thr405=