Canonical Allele Identifier: CA3146947

Gene: AGA

Linked Data

• dbSNP Id: rs771762718
• ExAC: 4:178360766 C / T
• gnomAD v2: 4-178360766-C-T
• gnomAD v4: 4-177439612-C-T
• MyVariant Identifiers: chr4:g.178360766C>T (hg19) ; chr4:g.177439612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439612C>T , CM000666.2:g.177439612C>T	GRCh38
NC_000004.11:g.178360766C>T , CM000666.1:g.178360766C>T	GRCh37
NC_000004.10:g.178597760C>T	NCBI36
NG_011845.2:g.7892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.358G>A MANE Select	ENSP00000264595.2:p.Glu120Lys
ENST00000264595.6:c.358G>A	ENSP00000264595.2:p.Glu120Lys
ENST00000502310.5:c.13G>A	ENSP00000423798.1:p.Glu5Lys
ENST00000506853.5:n.392G>A
ENST00000510635.1:c.54G>A
ENST00000510955.5:n.315+661G>A
NM_000027.3:c.358G>A	NP_000018.2:p.Glu120Lys
NM_001171988.1:c.358G>A	NP_001165459.1:p.Glu120Lys
NR_033655.1:n.486G>A
XM_006714123.2:c.358G>A	XP_006714186.1:p.Glu120Lys
XR_001741155.2:n.452G>A
NM_000027.4:c.358G>A MANE Select	NP_000018.2:p.Glu120Lys
NM_001171988.2:c.358G>A	NP_001165459.1:p.Glu120Lys
NR_033655.2:n.420G>A