Canonical Allele Identifier: CA481375388

Gene: PAH

Linked Data

• gnomAD v4: 12-102840494-A-T
• MyVariant Identifiers: chr12:g.103234272A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840494A>T , CM000674.2:g.102840494A>T	GRCh38
NC_000012.11:g.103234272A>T , CM000674.1:g.103234272A>T	GRCh37
NC_000012.10:g.101758402A>T	NCBI36
NG_008690.1:g.82109T>A
NG_008690.2:g.122917T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1221T>A MANE Select	ENSP00000448059.1:p.Pro407=
ENST00000307000.7:c.1206T>A	ENSP00000303500.2:p.Pro402=
ENST00000551114.2:n.883T>A
ENST00000553106.5:c.1221T>A	ENSP00000448059.1:p.Pro407=
ENST00000635477.1:c.325T>A
ENST00000635528.1:n.736T>A
NM_000277.1:c.1221T>A	NP_000268.1:p.Pro407=
XM_011538422.1:c.1164T>A	XP_011536724.1:p.Pro388=
NM_000277.2:c.1221T>A	NP_000268.1:p.Pro407=
NM_001354304.1:c.1221T>A	NP_001341233.1:p.Pro407=
NM_000277.3:c.1221T>A MANE Select	NP_000268.1:p.Pro407=
NM_001354304.2:c.1221T>A	NP_001341233.1:p.Pro407=