Canonical Allele Identifier: CA3147061

Gene: AGA

Linked Data

• dbSNP Id: rs758423275
• ExAC: 4:178363472 G / T
• gnomAD v2: 4-178363472-G-T
• gnomAD v4: 4-177442318-G-T
• MyVariant Identifiers: chr4:g.178363472G>T (hg19) ; chr4:g.177442318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442318G>T , CM000666.2:g.177442318G>T	GRCh38
NC_000004.11:g.178363472G>T , CM000666.1:g.178363472G>T	GRCh37
NC_000004.10:g.178600466G>T	NCBI36
NG_011845.2:g.5186C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.58C>A MANE Select	ENSP00000264595.2:p.Leu20Ile
ENST00000264595.6:c.58C>A	ENSP00000264595.2:p.Leu20Ile
ENST00000506853.5:n.92C>A
ENST00000510955.5:n.92C>A
ENST00000511231.1:n.92C>A
NM_000027.3:c.58C>A	NP_000018.2:p.Leu20Ile
NM_001171988.1:c.58C>A	NP_001165459.1:p.Leu20Ile
NR_033655.1:n.186C>A
XM_006714123.2:c.58C>A	XP_006714186.1:p.Leu20Ile
XR_001741155.2:n.152C>A
NM_000027.4:c.58C>A MANE Select	NP_000018.2:p.Leu20Ile
NM_001171988.2:c.58C>A	NP_001165459.1:p.Leu20Ile
NR_033655.2:n.120C>A