Canonical Allele Identifier: CA386296263

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2103619
• ClinVar RCV Id: RCV003022242
• MyVariant Identifiers: chr12:g.102155427T>G (hg19) ; chr12:g.101761649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761649T>G , CM000674.2:g.101761649T>G	GRCh38
NC_000012.11:g.102155427T>G , CM000674.1:g.102155427T>G	GRCh37
NC_000012.10:g.100679558T>G	NCBI36
NG_021243.1:g.74219A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2830A>C MANE Select	ENSP00000299314.7:p.Ser944Arg
ENST00000299314.11:c.2830A>C	ENSP00000299314.7:p.Ser944Arg
NM_024312.4:c.2830A>C	NP_077288.2:p.Ser944Arg
XM_006719593.2:c.2830A>C	XP_006719656.1:p.Ser944Arg
XM_011538731.1:c.2749A>C	XP_011537033.1:p.Ser917Arg
XM_006719593.3:c.2830A>C	XP_006719656.1:p.Ser944Arg
XM_011538731.2:c.2749A>C	XP_011537033.1:p.Ser917Arg
XM_017019961.1:c.2614A>C	XP_016875450.1:p.Ser872Arg
XM_017019962.2:c.1603A>C	XP_016875451.1:p.Ser535Arg
NM_024312.5:c.2830A>C MANE Select	NP_077288.2:p.Ser944Arg