Canonical Allele Identifier: CA3146980

Gene: AGA

Linked Data

• dbSNP Id: rs746411193
• ExAC: 4:178361423 T / G
• gnomAD v2: 4-178361423-T-G
• gnomAD v4: 4-177440269-T-G
• MyVariant Identifiers: chr4:g.178361423T>G (hg19) ; chr4:g.177440269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440269T>G , CM000666.2:g.177440269T>G	GRCh38
NC_000004.11:g.178361423T>G , CM000666.1:g.178361423T>G	GRCh37
NC_000004.10:g.178598417T>G	NCBI36
NG_011845.2:g.7235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+4A>C MANE Select	ENSP00000264595.2:n.281+4A>C
ENST00000264595.6:c.281+4A>C	ENSP00000264595.2:n.281+4A>C
ENST00000506853.5:n.315+4A>C
ENST00000510955.5:n.315+4A>C
ENST00000511231.1:n.319A>C
NM_000027.3:c.281+4A>C	NP_000018.2:n.281+4A>C
NM_001171988.1:c.281+4A>C	NP_001165459.1:n.281+4A>C
NR_033655.1:n.409+4A>C
XM_006714123.2:c.281+4A>C	XP_006714186.1:n.281+4A>C
XR_001741155.2:n.375+4A>C
NM_000027.4:c.281+4A>C MANE Select	NP_000018.2:n.281+4A>C
NM_001171988.2:c.281+4A>C	NP_001165459.1:n.281+4A>C
NR_033655.2:n.343+4A>C