Canonical Allele Identifier: CA284841

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 68105
• ClinVar RCV Id: RCV000058934
• dbSNP Id: rs137853823
• MyVariant Identifiers: chr12:g.102158820G>C (hg19) ; chr12:g.101765042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765042G>C , CM000674.2:g.101765042G>C	GRCh38
NC_000012.11:g.102158820G>C , CM000674.1:g.102158820G>C	GRCh37
NC_000012.10:g.100682951G>C	NCBI36
NG_021243.1:g.70826C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1875C>G MANE Select	ENSP00000299314.7:p.Phe625Leu
ENST00000299314.11:c.1875C>G	ENSP00000299314.7:p.Phe625Leu
NM_024312.4:c.1875C>G	NP_077288.2:p.Phe625Leu
XM_006719593.2:c.1875C>G	XP_006719656.1:p.Phe625Leu
XM_011538731.1:c.1794C>G	XP_011537033.1:p.Phe598Leu
XM_006719593.3:c.1875C>G	XP_006719656.1:p.Phe625Leu
XM_011538731.2:c.1794C>G	XP_011537033.1:p.Phe598Leu
XM_017019961.1:c.1659C>G	XP_016875450.1:p.Phe553Leu
XM_017019962.2:c.648C>G	XP_016875451.1:p.Phe216Leu
NM_024312.5:c.1875C>G MANE Select	NP_077288.2:p.Phe625Leu