Canonical Allele Identifier: CA481576687

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2952250
• ClinVar RCV Id: RCV003815401
• MyVariant Identifiers: chr12:g.102155380G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761602G>A , CM000674.2:g.101761602G>A	GRCh38
NC_000012.11:g.102155380G>A , CM000674.1:g.102155380G>A	GRCh37
NC_000012.10:g.100679511G>A	NCBI36
NG_021243.1:g.74266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2877C>T MANE Select	ENSP00000299314.7:p.His959=
ENST00000299314.11:c.2877C>T	ENSP00000299314.7:p.His959=
NM_024312.4:c.2877C>T	NP_077288.2:p.His959=
XM_006719593.2:c.2877C>T	XP_006719656.1:p.His959=
XM_011538731.1:c.2796C>T	XP_011537033.1:p.His932=
XM_006719593.3:c.2877C>T	XP_006719656.1:p.His959=
XM_011538731.2:c.2796C>T	XP_011537033.1:p.His932=
XM_017019961.1:c.2661C>T	XP_016875450.1:p.His887=
XM_017019962.2:c.1650C>T	XP_016875451.1:p.His550=
NM_024312.5:c.2877C>T MANE Select	NP_077288.2:p.His959=