Canonical Allele Identifier: CA556485664
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1334226658

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442419C>T , CM000666.2:g.177442419C>T GRCh38
NC_000004.11:g.178363573C>T , CM000666.1:g.178363573C>T GRCh37
NC_000004.10:g.178600567C>T NCBI36
NG_011845.2:g.5085G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-44G>A MANE Select ENSP00000264595.2:n.-44G>A
ENST00000264595.6:c.-44G>A ENSP00000264595.2:n.-44G>A
NM_000027.3:c.-44G>A NP_000018.2:n.-44G>A
NM_001171988.1:c.-44G>A NP_001165459.1:n.-44G>A
NR_033655.1:n.85G>A
XM_006714123.2:c.-44G>A XP_006714186.1:n.-44G>A
XR_001741155.2:n.51G>A
NM_000027.4:c.-44G>A MANE Select NP_000018.2:n.-44G>A
NM_001171988.2:c.-44G>A NP_001165459.1:n.-44G>A
NR_033655.2:n.19G>A