Canonical Allele Identifier: CA358784980

Gene: AGA

Linked Data

• dbSNP Id: rs1416362585
• gnomAD v2: 4-178363403-C-T
• gnomAD v4: 4-177442249-C-T
• MyVariant Identifiers: chr4:g.178363403C>T (hg19) ; chr4:g.177442249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442249C>T , CM000666.2:g.177442249C>T	GRCh38
NC_000004.11:g.178363403C>T , CM000666.1:g.178363403C>T	GRCh37
NC_000004.10:g.178600397C>T	NCBI36
NG_011845.2:g.5255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127G>A MANE Select	ENSP00000264595.2:p.Ala43Thr
ENST00000264595.6:c.127G>A	ENSP00000264595.2:p.Ala43Thr
ENST00000506853.5:n.161G>A
ENST00000510955.5:n.161G>A
ENST00000511231.1:n.161G>A
NM_000027.3:c.127G>A	NP_000018.2:p.Ala43Thr
NM_001171988.1:c.127G>A	NP_001165459.1:p.Ala43Thr
NR_033655.1:n.255G>A
XM_006714123.2:c.127G>A	XP_006714186.1:p.Ala43Thr
XR_001741155.2:n.221G>A
NM_000027.4:c.127G>A MANE Select	NP_000018.2:p.Ala43Thr
NM_001171988.2:c.127G>A	NP_001165459.1:p.Ala43Thr
NR_033655.2:n.189G>A