Canonical Allele Identifier: CA358783539
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439588C>A , CM000666.2:g.177439588C>A GRCh38
NC_000004.11:g.178360742C>A , CM000666.1:g.178360742C>A GRCh37
NC_000004.10:g.178597736C>A NCBI36
NG_011845.2:g.7916G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.382G>T MANE Select ENSP00000264595.2:p.Val128Leu
ENST00000264595.6:c.382G>T ENSP00000264595.2:p.Val128Leu
ENST00000502310.5:c.37G>T ENSP00000423798.1:p.Val13Leu
ENST00000506853.5:n.416G>T
ENST00000510635.1:c.78G>T
ENST00000510955.5:n.315+685G>T
NM_000027.3:c.382G>T NP_000018.2:p.Val128Leu
NM_001171988.1:c.382G>T NP_001165459.1:p.Val128Leu
NR_033655.1:n.510G>T
XM_006714123.2:c.382G>T XP_006714186.1:p.Val128Leu
XR_001741155.2:n.476G>T
NM_000027.4:c.382G>T MANE Select NP_000018.2:p.Val128Leu
NM_001171988.2:c.382G>T NP_001165459.1:p.Val128Leu
NR_033655.2:n.444G>T