Canonical Allele Identifier: CA358782091

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355558T>A (hg19) ; chr4:g.177434404T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434404T>A , CM000666.2:g.177434404T>A	GRCh38
NC_000004.11:g.178355558T>A , CM000666.1:g.178355558T>A	GRCh37
NC_000004.10:g.178592552T>A	NCBI36
NG_011845.2:g.13100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.784A>T MANE Select	ENSP00000264595.2:p.Ile262Leu
ENST00000264595.6:c.784A>T	ENSP00000264595.2:p.Ile262Leu
ENST00000502310.5:c.355A>T	ENSP00000423798.1:p.Ile119Leu
ENST00000506853.5:n.742A>T
NM_000027.3:c.784A>T	NP_000018.2:p.Ile262Leu
NM_001171988.1:c.754A>T	NP_001165459.1:p.Ile252Leu
NR_033655.1:n.836A>T
XM_006714123.2:c.*78A>T	XP_006714186.1:n.*78A>T
XR_001741155.2:n.856A>T
NM_000027.4:c.784A>T MANE Select	NP_000018.2:p.Ile262Leu
NM_001171988.2:c.754A>T	NP_001165459.1:p.Ile252Leu
NR_033655.2:n.770A>T