Canonical Allele Identifier: CA386493349

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103237548A>G (hg19) ; chr12:g.102843770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843770A>G , CM000674.2:g.102843770A>G	GRCh38
NC_000012.11:g.103237548A>G , CM000674.1:g.103237548A>G	GRCh37
NC_000012.10:g.101761678A>G	NCBI36
NG_008690.1:g.78833T>C
NG_008690.2:g.119641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1075T>C MANE Select	ENSP00000448059.1:p.Ser359Pro
ENST00000307000.7:c.1060T>C	ENSP00000303500.2:p.Ser354Pro
ENST00000549247.6:n.834T>C
ENST00000551114.2:n.737T>C
ENST00000553106.5:c.1075T>C	ENSP00000448059.1:p.Ser359Pro
ENST00000635477.1:c.179T>C
ENST00000635528.1:n.590T>C
NM_000277.1:c.1075T>C	NP_000268.1:p.Ser359Pro
XM_011538422.1:c.1018T>C	XP_011536724.1:p.Ser340Pro
NM_000277.2:c.1075T>C	NP_000268.1:p.Ser359Pro
NM_001354304.1:c.1075T>C	NP_001341233.1:p.Ser359Pro
NM_000277.3:c.1075T>C MANE Select	NP_000268.1:p.Ser359Pro
NM_001354304.2:c.1075T>C	NP_001341233.1:p.Ser359Pro