Canonical Allele Identifier: CA442333014

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361552A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440398A>G , CM000666.2:g.177440398A>G	GRCh38
NC_000004.11:g.178361552A>G , CM000666.1:g.178361552A>G	GRCh37
NC_000004.10:g.178598546A>G	NCBI36
NG_011845.2:g.7106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.156T>C MANE Select	ENSP00000264595.2:p.Ser52=
ENST00000264595.6:c.156T>C	ENSP00000264595.2:p.Ser52=
ENST00000506853.5:n.190T>C
ENST00000510955.5:n.190T>C
ENST00000511231.1:n.190T>C
NM_000027.3:c.156T>C	NP_000018.2:p.Ser52=
NM_001171988.1:c.156T>C	NP_001165459.1:p.Ser52=
NR_033655.1:n.284T>C
XM_006714123.2:c.156T>C	XP_006714186.1:p.Ser52=
XR_001741155.2:n.250T>C
NM_000027.4:c.156T>C MANE Select	NP_000018.2:p.Ser52=
NM_001171988.2:c.156T>C	NP_001165459.1:p.Ser52=
NR_033655.2:n.218T>C