Canonical Allele Identifier: CA358785199

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178363519T>A (hg19) ; chr4:g.177442365T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442365T>A , CM000666.2:g.177442365T>A	GRCh38
NC_000004.11:g.178363519T>A , CM000666.1:g.178363519T>A	GRCh37
NC_000004.10:g.178600513T>A	NCBI36
NG_011845.2:g.5139A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.11A>T MANE Select	ENSP00000264595.2:p.Lys4Met
ENST00000264595.6:c.11A>T	ENSP00000264595.2:p.Lys4Met
ENST00000506853.5:n.45A>T
ENST00000510955.5:n.45A>T
ENST00000511231.1:n.45A>T
NM_000027.3:c.11A>T	NP_000018.2:p.Lys4Met
NM_001171988.1:c.11A>T	NP_001165459.1:p.Lys4Met
NR_033655.1:n.139A>T
XM_006714123.2:c.11A>T	XP_006714186.1:p.Lys4Met
XR_001741155.2:n.105A>T
NM_000027.4:c.11A>T MANE Select	NP_000018.2:p.Lys4Met
NM_001171988.2:c.11A>T	NP_001165459.1:p.Lys4Met
NR_033655.2:n.73A>T