Canonical Allele Identifier: CA358782356

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355639C>G (hg19) ; chr4:g.177434485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434485C>G , CM000666.2:g.177434485C>G	GRCh38
NC_000004.11:g.178355639C>G , CM000666.1:g.178355639C>G	GRCh37
NC_000004.10:g.178592633C>G	NCBI36
NG_011845.2:g.13019G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.703G>C MANE Select	ENSP00000264595.2:p.Val235Leu
ENST00000264595.6:c.703G>C	ENSP00000264595.2:p.Val235Leu
ENST00000502310.5:c.278-4G>C	ENSP00000423798.1:n.278-4G>C
ENST00000506853.5:n.661G>C
ENST00000510635.1:c.373-4G>C
NM_000027.3:c.703G>C	NP_000018.2:p.Val235Leu
NM_001171988.1:c.677-4G>C	NP_001165459.1:n.677-4G>C
NR_033655.1:n.755G>C
XM_006714123.2:c.681G>C	XP_006714186.1:p.Val227=
XR_001741155.2:n.775G>C
NM_000027.4:c.703G>C MANE Select	NP_000018.2:p.Val235Leu
NM_001171988.2:c.677-4G>C	NP_001165459.1:n.677-4G>C
NR_033655.2:n.689G>C