Canonical Allele Identifier: CA3980281

Gene: MAN1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.119348855C>T , CM000668.2:g.119348855C>T	GRCh38
NC_000006.11:g.119670020C>T , CM000668.1:g.119670020C>T	GRCh37
NC_000006.10:g.119711719C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005907.4:c.211G>A MANE Select	NP_005898.2:p.Gly71Arg
ENST00000368468.4:c.211G>A MANE Select	ENSP00000357453.3:p.Gly71Arg
NM_005907.3:c.211G>A	NP_005898.2:p.Gly71Arg
ENST00000368468.3:c.211G>A	ENSP00000357453.3:p.Gly71Arg
XM_005266986.3:c.460G>A	XP_005267043.1:p.Gly154Arg
XM_005266986.4:c.460G>A	XP_005267043.1:p.Gly154Arg
XM_011535834.1:c.460G>A	XP_011534136.1:p.Gly154Arg
XM_011535834.3:c.460G>A	XP_011534136.1:p.Gly154Arg
XM_011535835.1:c.460G>A	XP_011534137.1:p.Gly154Arg
XR_001743420.1:n.525G>A