Canonical Allele Identifier: CA6746877

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 991613
• ClinVar RCV Id: RCV001279856 ; RCV001760321 ; RCV001871582
• dbSNP Id: rs200015550
• ExAC: 12:102179909 A / C
• gnomAD v2: 12-102179909-A-C
• gnomAD v3: 12-101786131-A-C
• gnomAD v4: 12-101786131-A-C
• MyVariant Identifiers: chr12:g.102179909A>C (hg19) ; chr12:g.101786131A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786131A>C , CM000674.2:g.101786131A>C	GRCh38
NC_000012.11:g.102179909A>C , CM000674.1:g.102179909A>C	GRCh37
NC_000012.10:g.100704040A>C	NCBI36
NG_021243.1:g.49737T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.452T>G MANE Select	ENSP00000299314.7:p.Leu151Arg
ENST00000299314.11:c.452T>G	ENSP00000299314.7:p.Leu151Arg
ENST00000549940.5:c.452T>G	ENSP00000449150.1:p.Leu151Arg
ENST00000550352.1:n.246T>G
ENST00000552681.1:c.86T>G	ENSP00000449217.1:p.Leu29Arg
NM_024312.4:c.452T>G	NP_077288.2:p.Leu151Arg
XM_006719593.2:c.452T>G	XP_006719656.1:p.Leu151Arg
XM_011538731.1:c.371T>G	XP_011537033.1:p.Leu124Arg
XM_006719593.3:c.452T>G	XP_006719656.1:p.Leu151Arg
XM_011538731.2:c.371T>G	XP_011537033.1:p.Leu124Arg
XM_017019961.1:c.236T>G	XP_016875450.1:p.Leu79Arg
XM_017019962.2:c.-899T>G	XP_016875451.1:n.-899T>G
NM_024312.5:c.452T>G MANE Select	NP_077288.2:p.Leu151Arg