Canonical Allele Identifier: CA358782354

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355638A>T (hg19) ; chr4:g.177434484A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434484A>T , CM000666.2:g.177434484A>T	GRCh38
NC_000004.11:g.178355638A>T , CM000666.1:g.178355638A>T	GRCh37
NC_000004.10:g.178592632A>T	NCBI36
NG_011845.2:g.13020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.704T>A MANE Select	ENSP00000264595.2:p.Val235Glu
ENST00000264595.6:c.704T>A	ENSP00000264595.2:p.Val235Glu
ENST00000502310.5:c.278-3T>A	ENSP00000423798.1:n.278-3T>A
ENST00000506853.5:n.662T>A
ENST00000510635.1:c.373-3T>A
NM_000027.3:c.704T>A	NP_000018.2:p.Val235Glu
NM_001171988.1:c.677-3T>A	NP_001165459.1:n.677-3T>A
NR_033655.1:n.756T>A
XM_006714123.2:c.682T>A	XP_006714186.1:p.Ter228Lys
XR_001741155.2:n.776T>A
NM_000027.4:c.704T>A MANE Select	NP_000018.2:p.Val235Glu
NM_001171988.2:c.677-3T>A	NP_001165459.1:n.677-3T>A
NR_033655.2:n.690T>A