Canonical Allele Identifier: CA358784338

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361497C>G (hg19) ; chr4:g.177440343C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440343C>G , CM000666.2:g.177440343C>G	GRCh38
NC_000004.11:g.178361497C>G , CM000666.1:g.178361497C>G	GRCh37
NC_000004.10:g.178598491C>G	NCBI36
NG_011845.2:g.7161G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.211G>C MANE Select	ENSP00000264595.2:p.Gly71Arg
ENST00000264595.6:c.211G>C	ENSP00000264595.2:p.Gly71Arg
ENST00000506853.5:n.245G>C
ENST00000510955.5:n.245G>C
ENST00000511231.1:n.245G>C
NM_000027.3:c.211G>C	NP_000018.2:p.Gly71Arg
NM_001171988.1:c.211G>C	NP_001165459.1:p.Gly71Arg
NR_033655.1:n.339G>C
XM_006714123.2:c.211G>C	XP_006714186.1:p.Gly71Arg
XR_001741155.2:n.305G>C
NM_000027.4:c.211G>C MANE Select	NP_000018.2:p.Gly71Arg
NM_001171988.2:c.211G>C	NP_001165459.1:p.Gly71Arg
NR_033655.2:n.273G>C