Canonical Allele Identifier: CA3147066

Gene: AGA

Linked Data

• dbSNP Id: rs533283043
• ExAC: 4:178363480 C / T
• gnomAD v2: 4-178363480-C-T
• gnomAD v3: 4-177442326-C-T
• gnomAD v4: 4-177442326-C-T
• MyVariant Identifiers: chr4:g.178363480C>T (hg19) ; chr4:g.177442326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442326C>T , CM000666.2:g.177442326C>T	GRCh38
NC_000004.11:g.178363480C>T , CM000666.1:g.178363480C>T	GRCh37
NC_000004.10:g.178600474C>T	NCBI36
NG_011845.2:g.5178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.50G>A MANE Select	ENSP00000264595.2:p.Cys17Tyr
ENST00000264595.6:c.50G>A	ENSP00000264595.2:p.Cys17Tyr
ENST00000506853.5:n.84G>A
ENST00000510955.5:n.84G>A
ENST00000511231.1:n.84G>A
NM_000027.3:c.50G>A	NP_000018.2:p.Cys17Tyr
NM_001171988.1:c.50G>A	NP_001165459.1:p.Cys17Tyr
NR_033655.1:n.178G>A
XM_006714123.2:c.50G>A	XP_006714186.1:p.Cys17Tyr
XR_001741155.2:n.144G>A
NM_000027.4:c.50G>A MANE Select	NP_000018.2:p.Cys17Tyr
NM_001171988.2:c.50G>A	NP_001165459.1:p.Cys17Tyr
NR_033655.2:n.112G>A