Canonical Allele Identifier: CA386293438

Gene: GNPTAB

Linked Data

• dbSNP Id: rs34940801
• MyVariant Identifiers: chr12:g.102151349C>A (hg19) ; chr12:g.101757571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757571C>A , CM000674.2:g.101757571C>A	GRCh38
NC_000012.11:g.102151349C>A , CM000674.1:g.102151349C>A	GRCh37
NC_000012.10:g.100675480C>A	NCBI36
NG_021243.1:g.78297G>T

Transcript Alleles

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