Canonical Allele Identifier: CA481576799

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1913030
• ClinVar RCV Id: RCV002608222
• MyVariant Identifiers: chr12:g.102155455G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761677G>A , CM000674.2:g.101761677G>A	GRCh38
NC_000012.11:g.102155455G>A , CM000674.1:g.102155455G>A	GRCh37
NC_000012.10:g.100679586G>A	NCBI36
NG_021243.1:g.74191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2802C>T MANE Select	ENSP00000299314.7:p.Ser934=
ENST00000299314.11:c.2802C>T	ENSP00000299314.7:p.Ser934=
NM_024312.4:c.2802C>T	NP_077288.2:p.Ser934=
XM_006719593.2:c.2802C>T	XP_006719656.1:p.Ser934=
XM_011538731.1:c.2721C>T	XP_011537033.1:p.Ser907=
XM_006719593.3:c.2802C>T	XP_006719656.1:p.Ser934=
XM_011538731.2:c.2721C>T	XP_011537033.1:p.Ser907=
XM_017019961.1:c.2586C>T	XP_016875450.1:p.Ser862=
XM_017019962.2:c.1575C>T	XP_016875451.1:p.Ser525=
NM_024312.5:c.2802C>T MANE Select	NP_077288.2:p.Ser934=