Canonical Allele Identifier: CA358782195

Gene: AGA

Linked Data

• dbSNP Id: rs1579040316
• gnomAD v4: 4-177434421-G-A
• MyVariant Identifiers: chr4:g.178355575G>A (hg19) ; chr4:g.177434421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434421G>A , CM000666.2:g.177434421G>A	GRCh38
NC_000004.11:g.178355575G>A , CM000666.1:g.178355575G>A	GRCh37
NC_000004.10:g.178592569G>A	NCBI36
NG_011845.2:g.13083C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.767C>T MANE Select	ENSP00000264595.2:p.Ala256Val
ENST00000264595.6:c.767C>T	ENSP00000264595.2:p.Ala256Val
ENST00000502310.5:c.338C>T	ENSP00000423798.1:p.Ala113Val
ENST00000506853.5:n.725C>T
NM_000027.3:c.767C>T	NP_000018.2:p.Ala256Val
NM_001171988.1:c.737C>T	NP_001165459.1:p.Ala246Val
NR_033655.1:n.819C>T
XM_006714123.2:c.*61C>T	XP_006714186.1:n.*61C>T
XR_001741155.2:n.839C>T
NM_000027.4:c.767C>T MANE Select	NP_000018.2:p.Ala256Val
NM_001171988.2:c.737C>T	NP_001165459.1:p.Ala246Val
NR_033655.2:n.753C>T