Canonical Allele Identifier: CA358782240

Gene: AGA

Linked Data

• dbSNP Id: rs1736735261
• gnomAD v3: 4-177434430-G-A
• gnomAD v4: 4-177434430-G-A
• MyVariant Identifiers: chr4:g.178355584G>A (hg19) ; chr4:g.177434430G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434430G>A , CM000666.2:g.177434430G>A	GRCh38
NC_000004.11:g.178355584G>A , CM000666.1:g.178355584G>A	GRCh37
NC_000004.10:g.178592578G>A	NCBI36
NG_011845.2:g.13074C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.758C>T MANE Select	ENSP00000264595.2:p.Ala253Val
ENST00000264595.6:c.758C>T	ENSP00000264595.2:p.Ala253Val
ENST00000502310.5:c.329C>T	ENSP00000423798.1:p.Ala110Val
ENST00000506853.5:n.716C>T
NM_000027.3:c.758C>T	NP_000018.2:p.Ala253Val
NM_001171988.1:c.728C>T	NP_001165459.1:p.Ala243Val
NR_033655.1:n.810C>T
XM_006714123.2:c.*52C>T	XP_006714186.1:n.*52C>T
XR_001741155.2:n.830C>T
NM_000027.4:c.758C>T MANE Select	NP_000018.2:p.Ala253Val
NM_001171988.2:c.728C>T	NP_001165459.1:p.Ala243Val
NR_033655.2:n.744C>T