Canonical Allele Identifier: CA358784983

Gene: AGA

Linked Data

• gnomAD v4: 4-177442251-G-A
• MyVariant Identifiers: chr4:g.178363405G>A (hg19) ; chr4:g.177442251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442251G>A , CM000666.2:g.177442251G>A	GRCh38
NC_000004.11:g.178363405G>A , CM000666.1:g.178363405G>A	GRCh37
NC_000004.10:g.178600399G>A	NCBI36
NG_011845.2:g.5253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.125C>T MANE Select	ENSP00000264595.2:p.Ala42Val
ENST00000264595.6:c.125C>T	ENSP00000264595.2:p.Ala42Val
ENST00000506853.5:n.159C>T
ENST00000510955.5:n.159C>T
ENST00000511231.1:n.159C>T
NM_000027.3:c.125C>T	NP_000018.2:p.Ala42Val
NM_001171988.1:c.125C>T	NP_001165459.1:p.Ala42Val
NR_033655.1:n.253C>T
XM_006714123.2:c.125C>T	XP_006714186.1:p.Ala42Val
XR_001741155.2:n.219C>T
NM_000027.4:c.125C>T MANE Select	NP_000018.2:p.Ala42Val
NM_001171988.2:c.125C>T	NP_001165459.1:p.Ala42Val
NR_033655.2:n.187C>T