Canonical Allele Identifier: CA6746847

Gene: GNPTAB

Linked Data

• dbSNP Id: rs770629653
• ExAC: 12:102179739 T / C
• gnomAD v2: 12-102179739-T-C
• gnomAD v4: 12-101785961-T-C
• MyVariant Identifiers: chr12:g.102179739T>C (hg19) ; chr12:g.101785961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785961T>C , CM000674.2:g.101785961T>C	GRCh38
NC_000012.11:g.102179739T>C , CM000674.1:g.102179739T>C	GRCh37
NC_000012.10:g.100703870T>C	NCBI36
NG_021243.1:g.49907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+51A>G MANE Select	ENSP00000299314.7:n.571+51A>G
ENST00000299314.11:c.571+51A>G	ENSP00000299314.7:n.571+51A>G
ENST00000549940.5:c.571+51A>G	ENSP00000449150.1:n.571+51A>G
ENST00000550352.1:n.416A>G
ENST00000552681.1:c.205+51A>G	ENSP00000449217.1:n.205+51A>G
NM_024312.4:c.571+51A>G	NP_077288.2:n.571+51A>G
XM_006719593.2:c.571+51A>G	XP_006719656.1:n.571+51A>G
XM_011538731.1:c.490+51A>G	XP_011537033.1:n.490+51A>G
XM_006719593.3:c.571+51A>G	XP_006719656.1:n.571+51A>G
XM_011538731.2:c.490+51A>G	XP_011537033.1:n.490+51A>G
XM_017019961.1:c.355+51A>G	XP_016875450.1:n.355+51A>G
XM_017019962.2:c.-780+51A>G	XP_016875451.1:n.-780+51A>G
NM_024312.5:c.571+51A>G MANE Select	NP_077288.2:n.571+51A>G