Canonical Allele Identifier: CA386296273

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1364929
• ClinVar RCV Id: RCV001942534
• dbSNP Id: rs2137112862
• MyVariant Identifiers: chr12:g.102155432A>G (hg19) ; chr12:g.101761654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761654A>G , CM000674.2:g.101761654A>G	GRCh38
NC_000012.11:g.102155432A>G , CM000674.1:g.102155432A>G	GRCh37
NC_000012.10:g.100679563A>G	NCBI36
NG_021243.1:g.74214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2825T>C MANE Select	ENSP00000299314.7:p.Leu942Pro
ENST00000299314.11:c.2825T>C	ENSP00000299314.7:p.Leu942Pro
NM_024312.4:c.2825T>C	NP_077288.2:p.Leu942Pro
XM_006719593.2:c.2825T>C	XP_006719656.1:p.Leu942Pro
XM_011538731.1:c.2744T>C	XP_011537033.1:p.Leu915Pro
XM_006719593.3:c.2825T>C	XP_006719656.1:p.Leu942Pro
XM_011538731.2:c.2744T>C	XP_011537033.1:p.Leu915Pro
XM_017019961.1:c.2609T>C	XP_016875450.1:p.Leu870Pro
XM_017019962.2:c.1598T>C	XP_016875451.1:p.Leu533Pro
NM_024312.5:c.2825T>C MANE Select	NP_077288.2:p.Leu942Pro