Canonical Allele Identifier: CA556484150

Gene: AGA

Linked Data

• ClinVar Variation Id: 1989934
• ClinVar RCV Id: RCV002800633
• dbSNP Id: rs1422321468
• gnomAD v2: 4-178359879-T-A
• gnomAD v3: 4-177438725-T-A
• gnomAD v4: 4-177438725-T-A
• MyVariant Identifiers: chr4:g.178359879T>A (hg19) ; chr4:g.177438725T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438725T>A , CM000666.2:g.177438725T>A	GRCh38
NC_000004.11:g.178359879T>A , CM000666.1:g.178359879T>A	GRCh37
NC_000004.10:g.178596873T>A	NCBI36
NG_011845.2:g.8779A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+20A>T MANE Select	ENSP00000264595.2:n.507+20A>T
ENST00000264595.6:c.507+20A>T	ENSP00000264595.2:n.507+20A>T
ENST00000502310.5:c.162+20A>T	ENSP00000423798.1:n.162+20A>T
ENST00000506853.5:n.541+20A>T
ENST00000510635.1:c.203+20A>T
ENST00000510955.5:n.428+20A>T
NM_000027.3:c.507+20A>T	NP_000018.2:n.507+20A>T
NM_001171988.1:c.507+20A>T	NP_001165459.1:n.507+20A>T
NR_033655.1:n.635+20A>T
XM_006714123.2:c.507+20A>T	XP_006714186.1:n.507+20A>T
XR_001741155.2:n.601+20A>T
NM_000027.4:c.507+20A>T MANE Select	NP_000018.2:n.507+20A>T
NM_001171988.2:c.507+20A>T	NP_001165459.1:n.507+20A>T
NR_033655.2:n.569+20A>T