Canonical Allele Identifier: CA3147055

Gene: AGA

Linked Data

• dbSNP Id: rs755612270
• ExAC: 4:178363447 G / T
• gnomAD v2: 4-178363447-G-T
• gnomAD v4: 4-177442293-G-T
• MyVariant Identifiers: chr4:g.178363447G>T (hg19) ; chr4:g.177442293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442293G>T , CM000666.2:g.177442293G>T	GRCh38
NC_000004.11:g.178363447G>T , CM000666.1:g.178363447G>T	GRCh37
NC_000004.10:g.178600441G>T	NCBI36
NG_011845.2:g.5211C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.83C>A MANE Select	ENSP00000264595.2:p.Pro28His
ENST00000264595.6:c.83C>A	ENSP00000264595.2:p.Pro28His
ENST00000506853.5:n.117C>A
ENST00000510955.5:n.117C>A
ENST00000511231.1:n.117C>A
NM_000027.3:c.83C>A	NP_000018.2:p.Pro28His
NM_001171988.1:c.83C>A	NP_001165459.1:p.Pro28His
NR_033655.1:n.211C>A
XM_006714123.2:c.83C>A	XP_006714186.1:p.Pro28His
XR_001741155.2:n.177C>A
NM_000027.4:c.83C>A MANE Select	NP_000018.2:p.Pro28His
NM_001171988.2:c.83C>A	NP_001165459.1:p.Pro28His
NR_033655.2:n.145C>A