Canonical Allele Identifier: CA358783550

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360747A>T (hg19) ; chr4:g.177439593A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439593A>T , CM000666.2:g.177439593A>T	GRCh38
NC_000004.11:g.178360747A>T , CM000666.1:g.178360747A>T	GRCh37
NC_000004.10:g.178597741A>T	NCBI36
NG_011845.2:g.7911T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.377T>A MANE Select	ENSP00000264595.2:p.Leu126His
ENST00000264595.6:c.377T>A	ENSP00000264595.2:p.Leu126His
ENST00000502310.5:c.32T>A	ENSP00000423798.1:p.Leu11His
ENST00000506853.5:n.411T>A
ENST00000510635.1:c.73T>A
ENST00000510955.5:n.315+680T>A
NM_000027.3:c.377T>A	NP_000018.2:p.Leu126His
NM_001171988.1:c.377T>A	NP_001165459.1:p.Leu126His
NR_033655.1:n.505T>A
XM_006714123.2:c.377T>A	XP_006714186.1:p.Leu126His
XR_001741155.2:n.471T>A
NM_000027.4:c.377T>A MANE Select	NP_000018.2:p.Leu126His
NM_001171988.2:c.377T>A	NP_001165459.1:p.Leu126His
NR_033655.2:n.439T>A