Canonical Allele Identifier: CA6746973

Gene: GNPTAB

Linked Data

• dbSNP Id: rs756351700
• ExAC: 12:102190412 C / T
• gnomAD v2: 12-102190412-C-T
• gnomAD v3: 12-101796634-C-T
• gnomAD v4: 12-101796634-C-T
• MyVariant Identifiers: chr12:g.102190412C>T (hg19) ; chr12:g.101796634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796634C>T , CM000674.2:g.101796634C>T	GRCh38
NC_000012.11:g.102190412C>T , CM000674.1:g.102190412C>T	GRCh37
NC_000012.10:g.100714543C>T	NCBI36
NG_021243.1:g.39234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+43G>A MANE Select	ENSP00000299314.7:n.203+43G>A
ENST00000647144.1:n.323+43G>A
ENST00000299314.11:c.203+43G>A	ENSP00000299314.7:n.203+43G>A
ENST00000392919.4:c.203+43G>A	ENSP00000376651.4:n.203+43G>A
ENST00000549165.1:c.*39G>A	ENSP00000450413.1:n.*39G>A
ENST00000549940.5:c.203+43G>A	ENSP00000449150.1:n.203+43G>A
NM_024312.4:c.203+43G>A	NP_077288.2:n.203+43G>A
XM_006719593.2:c.203+43G>A	XP_006719656.1:n.203+43G>A
XM_011538731.1:c.122+43G>A	XP_011537033.1:n.122+43G>A
XM_006719593.3:c.203+43G>A	XP_006719656.1:n.203+43G>A
XM_011538731.2:c.122+43G>A	XP_011537033.1:n.122+43G>A
XM_017019961.1:c.-14+43G>A	XP_016875450.1:n.-14+43G>A
XM_017019962.2:c.-1148+43G>A	XP_016875451.1:n.-1148+43G>A
NM_024312.5:c.203+43G>A MANE Select	NP_077288.2:n.203+43G>A