Canonical Allele Identifier: CA110792101
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1030888905
MyVariant Identifiers: chr4:g.178363630T>A (hg19) chr4:g.177442476T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442476T>A , CM000666.2:g.177442476T>A GRCh38
NC_000004.11:g.178363630T>A , CM000666.1:g.178363630T>A GRCh37
NC_000004.10:g.178600624T>A NCBI36
NG_011845.2:g.5028A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-101A>T ENSP00000264595.2:n.-101A>T
NM_000027.3:c.-101A>T NP_000018.2:n.-101A>T
NM_001171988.1:c.-101A>T NP_001165459.1:n.-101A>T
NR_033655.1:n.28A>T
XM_006714123.2:c.-101A>T XP_006714186.1:n.-101A>T
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