Canonical Allele Identifier: CA1515649815
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1737070997

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442417G>A , CM000666.2:g.177442417G>A GRCh38
NC_000004.11:g.178363571G>A , CM000666.1:g.178363571G>A GRCh37
NC_000004.10:g.178600565G>A NCBI36
NG_011845.2:g.5087C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-42C>T MANE Select ENSP00000264595.2:n.-42C>T
ENST00000264595.6:c.-42C>T ENSP00000264595.2:n.-42C>T
NM_000027.3:c.-42C>T NP_000018.2:n.-42C>T
NM_001171988.1:c.-42C>T NP_001165459.1:n.-42C>T
NR_033655.1:n.87C>T
XM_006714123.2:c.-42C>T XP_006714186.1:n.-42C>T
XR_001741155.2:n.53C>T
NM_000027.4:c.-42C>T MANE Select NP_000018.2:n.-42C>T
NM_001171988.2:c.-42C>T NP_001165459.1:n.-42C>T
NR_033655.2:n.21C>T