Canonical Allele Identifier: CA386493468

Gene: PAH

Linked Data

• gnomAD v4: 12-102844396-T-A
• MyVariant Identifiers: chr12:g.103238174T>A (hg19) ; chr12:g.102844396T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844396T>A , CM000674.2:g.102844396T>A	GRCh38
NC_000012.11:g.103238174T>A , CM000674.1:g.103238174T>A	GRCh37
NC_000012.10:g.101762304T>A	NCBI36
NG_008690.1:g.78207A>T
NG_008690.2:g.119015A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1005A>T MANE Select	ENSP00000448059.1:p.Lys335Asn
ENST00000307000.7:c.990A>T	ENSP00000303500.2:p.Lys330Asn
ENST00000549247.6:n.764A>T
ENST00000551114.2:n.667A>T
ENST00000553106.5:c.1005A>T	ENSP00000448059.1:p.Lys335Asn
ENST00000635477.1:c.109A>T
ENST00000635528.1:n.520A>T
NM_000277.1:c.1005A>T	NP_000268.1:p.Lys335Asn
XM_011538422.1:c.948A>T	XP_011536724.1:p.Lys316Asn
NM_000277.2:c.1005A>T	NP_000268.1:p.Lys335Asn
NM_001354304.1:c.1005A>T	NP_001341233.1:p.Lys335Asn
NM_000277.3:c.1005A>T MANE Select	NP_000268.1:p.Lys335Asn
NM_001354304.2:c.1005A>T	NP_001341233.1:p.Lys335Asn