Canonical Allele Identifier: CA481375394

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103234281G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102840503G>C , CM000674.2:g.102840503G>C	GRCh38
NC_000012.11:g.103234281G>C , CM000674.1:g.103234281G>C	GRCh37
NC_000012.10:g.101758411G>C	NCBI36
NG_008690.1:g.82100C>G
NG_008690.2:g.122908C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1212C>G MANE Select	ENSP00000448059.1:p.Ala404=
ENST00000307000.7:c.1197C>G	ENSP00000303500.2:p.Ala399=
ENST00000551114.2:n.874C>G
ENST00000553106.5:c.1212C>G	ENSP00000448059.1:p.Ala404=
ENST00000635477.1:c.316C>G
ENST00000635528.1:n.727C>G
NM_000277.1:c.1212C>G	NP_000268.1:p.Ala404=
XM_011538422.1:c.1155C>G	XP_011536724.1:p.Ala385=
NM_000277.2:c.1212C>G	NP_000268.1:p.Ala404=
NM_001354304.1:c.1212C>G	NP_001341233.1:p.Ala404=
NM_000277.3:c.1212C>G MANE Select	NP_000268.1:p.Ala404=
NM_001354304.2:c.1212C>G	NP_001341233.1:p.Ala404=