Canonical Allele Identifier: CA358783642

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360777C>A (hg19) ; chr4:g.177439623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439623C>A , CM000666.2:g.177439623C>A	GRCh38
NC_000004.11:g.178360777C>A , CM000666.1:g.178360777C>A	GRCh37
NC_000004.10:g.178597771C>A	NCBI36
NG_011845.2:g.7881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.347G>T MANE Select	ENSP00000264595.2:p.Arg116Leu
ENST00000264595.6:c.347G>T	ENSP00000264595.2:p.Arg116Leu
ENST00000502310.5:c.2G>T	ENSP00000423798.1:p.Arg1Leu
ENST00000506853.5:n.381G>T
ENST00000510635.1:c.43G>T
ENST00000510955.5:n.315+650G>T
NM_000027.3:c.347G>T	NP_000018.2:p.Arg116Leu
NM_001171988.1:c.347G>T	NP_001165459.1:p.Arg116Leu
NR_033655.1:n.475G>T
XM_006714123.2:c.347G>T	XP_006714186.1:p.Arg116Leu
XR_001741155.2:n.441G>T
NM_000027.4:c.347G>T MANE Select	NP_000018.2:p.Arg116Leu
NM_001171988.2:c.347G>T	NP_001165459.1:p.Arg116Leu
NR_033655.2:n.409G>T