Canonical Allele Identifier: CA358785218
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442375T>A , CM000666.2:g.177442375T>A GRCh38
NC_000004.11:g.178363529T>A , CM000666.1:g.178363529T>A GRCh37
NC_000004.10:g.178600523T>A NCBI36
NG_011845.2:g.5129A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.1A>T MANE Select ENSP00000264595.2:p.Met1Leu
ENST00000264595.6:c.1A>T ENSP00000264595.2:p.Met1Leu
ENST00000506853.5:n.35A>T
ENST00000510955.5:n.35A>T
ENST00000511231.1:n.35A>T
NM_000027.3:c.1A>T NP_000018.2:p.Met1Leu
NM_001171988.1:c.1A>T NP_001165459.1:p.Met1Leu
NR_033655.1:n.129A>T
XM_006714123.2:c.1A>T XP_006714186.1:p.Met1Leu
XR_001741155.2:n.95A>T
NM_000027.4:c.1A>T MANE Select NP_000018.2:p.Met1Leu
NM_001171988.2:c.1A>T NP_001165459.1:p.Met1Leu
NR_033655.2:n.63A>T