Canonical Allele Identifier: CA358782242

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355584G>T (hg19) ; chr4:g.177434430G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.758C>A MANE Select	ENSP00000264595.2:p.Ala253Glu
ENST00000264595.6:c.758C>A	ENSP00000264595.2:p.Ala253Glu
ENST00000502310.5:c.329C>A	ENSP00000423798.1:p.Ala110Glu
ENST00000506853.5:n.716C>A
NM_000027.3:c.758C>A	NP_000018.2:p.Ala253Glu
NM_001171988.1:c.728C>A	NP_001165459.1:p.Ala243Glu
NR_033655.1:n.810C>A
XM_006714123.2:c.*52C>A	XP_006714186.1:n.*52C>A
XR_001741155.2:n.830C>A
NM_000027.4:c.758C>A MANE Select	NP_000018.2:p.Ala253Glu
NM_001171988.2:c.728C>A	NP_001165459.1:p.Ala243Glu
NR_033655.2:n.744C>A