Canonical Allele Identifier: CA358784482

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361523G>C (hg19) ; chr4:g.177440369G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440369G>C , CM000666.2:g.177440369G>C	GRCh38
NC_000004.11:g.178361523G>C , CM000666.1:g.178361523G>C	GRCh37
NC_000004.10:g.178598517G>C	NCBI36
NG_011845.2:g.7135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.185C>G MANE Select	ENSP00000264595.2:p.Ala62Gly
ENST00000264595.6:c.185C>G	ENSP00000264595.2:p.Ala62Gly
ENST00000506853.5:n.219C>G
ENST00000510955.5:n.219C>G
ENST00000511231.1:n.219C>G
NM_000027.3:c.185C>G	NP_000018.2:p.Ala62Gly
NM_001171988.1:c.185C>G	NP_001165459.1:p.Ala62Gly
NR_033655.1:n.313C>G
XM_006714123.2:c.185C>G	XP_006714186.1:p.Ala62Gly
XR_001741155.2:n.279C>G
NM_000027.4:c.185C>G MANE Select	NP_000018.2:p.Ala62Gly
NM_001171988.2:c.185C>G	NP_001165459.1:p.Ala62Gly
NR_033655.2:n.247C>G