Canonical Allele Identifier: CA386294788

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1594209846
• gnomAD v3: 12-101760099-C-T
• gnomAD v4: 12-101760099-C-T
• MyVariant Identifiers: chr12:g.102153877C>T (hg19) ; chr12:g.101760099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760099C>T , CM000674.2:g.101760099C>T	GRCh38
NC_000012.11:g.102153877C>T , CM000674.1:g.102153877C>T	GRCh37
NC_000012.10:g.100678008C>T	NCBI36
NG_021243.1:g.75769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3180G>A MANE Select	ENSP00000299314.7:p.Met1060Ile
ENST00000299314.11:c.3180G>A	ENSP00000299314.7:p.Met1060Ile
ENST00000549194.1:n.46G>A
NM_024312.4:c.3180G>A	NP_077288.2:p.Met1060Ile
XM_006719593.2:c.3180G>A	XP_006719656.1:p.Met1060Ile
XM_011538731.1:c.3099G>A	XP_011537033.1:p.Met1033Ile
XM_006719593.3:c.3180G>A	XP_006719656.1:p.Met1060Ile
XM_011538731.2:c.3099G>A	XP_011537033.1:p.Met1033Ile
XM_017019961.1:c.2964G>A	XP_016875450.1:p.Met988Ile
XM_017019962.2:c.1953G>A	XP_016875451.1:p.Met651Ile
NM_024312.5:c.3180G>A MANE Select	NP_077288.2:p.Met1060Ile