Canonical Allele Identifier: CA358785095

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363461G>C (hg19) ; chr4:g.177442307G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442307G>C , CM000666.2:g.177442307G>C	GRCh38
NC_000004.11:g.178363461G>C , CM000666.1:g.178363461G>C	GRCh37
NC_000004.10:g.178600455G>C	NCBI36
NG_011845.2:g.5197C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.69C>G MANE Select	ENSP00000264595.2:p.Cys23Trp
ENST00000264595.6:c.69C>G	ENSP00000264595.2:p.Cys23Trp
ENST00000506853.5:n.103C>G
ENST00000510955.5:n.103C>G
ENST00000511231.1:n.103C>G
NM_000027.3:c.69C>G	NP_000018.2:p.Cys23Trp
NM_001171988.1:c.69C>G	NP_001165459.1:p.Cys23Trp
NR_033655.1:n.197C>G
XM_006714123.2:c.69C>G	XP_006714186.1:p.Cys23Trp
XR_001741155.2:n.163C>G
NM_000027.4:c.69C>G MANE Select	NP_000018.2:p.Cys23Trp
NM_001171988.2:c.69C>G	NP_001165459.1:p.Cys23Trp
NR_033655.2:n.131C>G