Canonical Allele Identifier: CA1515649820
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1334226658
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Genomic Alleles

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

Transcript Alleles

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