Canonical Allele Identifier: CA110789629

Gene: AGA

Linked Data

• dbSNP Id: rs748919715
• gnomAD v2: 4-178359825-G-A
• gnomAD v3: 4-177438671-G-A
• gnomAD v4: 4-177438671-G-A
• MyVariant Identifiers: chr4:g.178359825G>A (hg19) ; chr4:g.177438671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438671G>A , CM000666.2:g.177438671G>A	GRCh38
NC_000004.11:g.178359825G>A , CM000666.1:g.178359825G>A	GRCh37
NC_000004.10:g.178596819G>A	NCBI36
NG_011845.2:g.8833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.507+74C>T MANE Select	ENSP00000264595.2:n.507+74C>T
ENST00000264595.6:c.507+74C>T	ENSP00000264595.2:n.507+74C>T
ENST00000502310.5:c.162+74C>T	ENSP00000423798.1:n.162+74C>T
ENST00000506853.5:n.541+74C>T
ENST00000510635.1:c.203+74C>T
ENST00000510955.5:n.428+74C>T
NM_000027.3:c.507+74C>T	NP_000018.2:n.507+74C>T
NM_001171988.1:c.507+74C>T	NP_001165459.1:n.507+74C>T
NR_033655.1:n.635+74C>T
XM_006714123.2:c.507+74C>T	XP_006714186.1:n.507+74C>T
XR_001741155.2:n.601+74C>T
NM_000027.4:c.507+74C>T MANE Select	NP_000018.2:n.507+74C>T
NM_001171988.2:c.507+74C>T	NP_001165459.1:n.507+74C>T
NR_033655.2:n.569+74C>T