Canonical Allele Identifier: CA386295407

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102154993T>A (hg19) ; chr12:g.101761215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761215T>A , CM000674.2:g.101761215T>A	GRCh38
NC_000012.11:g.102154993T>A , CM000674.1:g.102154993T>A	GRCh37
NC_000012.10:g.100679124T>A	NCBI36
NG_021243.1:g.74653A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3047A>T MANE Select	ENSP00000299314.7:p.Glu1016Val
ENST00000299314.11:c.3047A>T	ENSP00000299314.7:p.Glu1016Val
NM_024312.4:c.3047A>T	NP_077288.2:p.Glu1016Val
XM_006719593.2:c.3047A>T	XP_006719656.1:p.Glu1016Val
XM_011538731.1:c.2966A>T	XP_011537033.1:p.Glu989Val
XM_006719593.3:c.3047A>T	XP_006719656.1:p.Glu1016Val
XM_011538731.2:c.2966A>T	XP_011537033.1:p.Glu989Val
XM_017019961.1:c.2831A>T	XP_016875450.1:p.Glu944Val
XM_017019962.2:c.1820A>T	XP_016875451.1:p.Glu607Val
NM_024312.5:c.3047A>T MANE Select	NP_077288.2:p.Glu1016Val