Canonical Allele Identifier: CA501186

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397572
• ClinVar RCV Id: RCV000449614
• dbSNP Id: rs397507562
• gnomAD v4: 12-101757311-C-T
• MyVariant Identifiers: chr12:g.102151089C>T (hg19) ; chr12:g.101757311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757311C>T , CM000674.2:g.101757311C>T	GRCh38
NC_000012.11:g.102151089C>T , CM000674.1:g.102151089C>T	GRCh37
NC_000012.10:g.100675220C>T	NCBI36
NG_021243.1:g.78557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3336-1G>A MANE Select	ENSP00000299314.7:n.3336-1G>A
ENST00000299314.11:c.3336-1G>A	ENSP00000299314.7:n.3336-1G>A
ENST00000549194.1:n.202-1G>A
ENST00000549738.5:c.87-1G>A	ENSP00000450161.1:n.87-1G>A
ENST00000550718.1:c.148-1G>A
NM_024312.4:c.3336-1G>A	NP_077288.2:n.3336-1G>A
XM_006719593.2:c.3336-1G>A	XP_006719656.1:n.3336-1G>A
XM_011538731.1:c.3255-1G>A	XP_011537033.1:n.3255-1G>A
XM_006719593.3:c.3336-1G>A	XP_006719656.1:n.3336-1G>A
XM_011538731.2:c.3255-1G>A	XP_011537033.1:n.3255-1G>A
XM_017019961.1:c.3120-1G>A	XP_016875450.1:n.3120-1G>A
XM_017019962.2:c.2109-1G>A	XP_016875451.1:n.2109-1G>A
NM_024312.5:c.3336-1G>A MANE Select	NP_077288.2:n.3336-1G>A