Canonical Allele Identifier: CA358783569
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439602G>T , CM000666.2:g.177439602G>T GRCh38
NC_000004.11:g.178360756G>T , CM000666.1:g.178360756G>T GRCh37
NC_000004.10:g.178597750G>T NCBI36
NG_011845.2:g.7902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.368C>A MANE Select ENSP00000264595.2:p.Thr123Lys
ENST00000264595.6:c.368C>A ENSP00000264595.2:p.Thr123Lys
ENST00000502310.5:c.23C>A ENSP00000423798.1:p.Thr8Lys
ENST00000506853.5:n.402C>A
ENST00000510635.1:c.64C>A
ENST00000510955.5:n.315+671C>A
NM_000027.3:c.368C>A NP_000018.2:p.Thr123Lys
NM_001171988.1:c.368C>A NP_001165459.1:p.Thr123Lys
NR_033655.1:n.496C>A
XM_006714123.2:c.368C>A XP_006714186.1:p.Thr123Lys
XR_001741155.2:n.462C>A
NM_000027.4:c.368C>A MANE Select NP_000018.2:p.Thr123Lys
NM_001171988.2:c.368C>A NP_001165459.1:p.Thr123Lys
NR_033655.2:n.430C>A