Canonical Allele Identifier: CA2672748591
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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