Canonical Allele Identifier: CA6746193

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 261694
• ClinVar RCV Id: RCV000247757 ; RCV000286853 ; RCV000325410 ; RCV000675286 ; RCV002058326
• dbSNP Id: rs141927805
• ExAC: 12:102151336 C / T
• gnomAD v2: 12-102151336-C-T
• gnomAD v3: 12-101757558-C-T
• gnomAD v4: 12-101757558-C-T
• MyVariant Identifiers: chr12:g.102151336C>T (hg19) ; chr12:g.101757558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757558C>T , CM000674.2:g.101757558C>T	GRCh38
NC_000012.11:g.102151336C>T , CM000674.1:g.102151336C>T	GRCh37
NC_000012.10:g.100675467C>T	NCBI36
NG_021243.1:g.78310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+14G>A MANE Select	ENSP00000299314.7:n.3335+14G>A
ENST00000299314.11:c.3335+14G>A	ENSP00000299314.7:n.3335+14G>A
ENST00000549194.1:n.201+14G>A
ENST00000549738.5:c.86+14G>A	ENSP00000450161.1:n.86+14G>A
ENST00000550718.1:c.147+14G>A
NM_024312.4:c.3335+14G>A	NP_077288.2:n.3335+14G>A
XM_006719593.2:c.3335+14G>A	XP_006719656.1:n.3335+14G>A
XM_011538731.1:c.3254+14G>A	XP_011537033.1:n.3254+14G>A
XM_006719593.3:c.3335+14G>A	XP_006719656.1:n.3335+14G>A
XM_011538731.2:c.3254+14G>A	XP_011537033.1:n.3254+14G>A
XM_017019961.1:c.3119+14G>A	XP_016875450.1:n.3119+14G>A
XM_017019962.2:c.2108+14G>A	XP_016875451.1:n.2108+14G>A
NM_024312.5:c.3335+14G>A MANE Select	NP_077288.2:n.3335+14G>A