Canonical Allele Identifier: CA607597854

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1398776
• ClinVar RCV Id: RCV001893629
• dbSNP Id: rs1428507375
• gnomAD v2: 12-102164181-T-C
• MyVariant Identifiers: chr12:g.102164181T>C (hg19) ; chr12:g.101770403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770403T>C , CM000674.2:g.101770403T>C	GRCh38
NC_000012.11:g.102164181T>C , CM000674.1:g.102164181T>C	GRCh37
NC_000012.10:g.100688312T>C	NCBI36
NG_021243.1:g.65465A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1113+3A>G MANE Select	ENSP00000299314.7:n.1113+3A>G
ENST00000299314.11:c.1113+3A>G	ENSP00000299314.7:n.1113+3A>G
ENST00000549940.5:c.1113+3A>G	ENSP00000449150.1:n.1113+3A>G
NM_024312.4:c.1113+3A>G	NP_077288.2:n.1113+3A>G
XM_006719593.2:c.1113+3A>G	XP_006719656.1:n.1113+3A>G
XM_011538731.1:c.1032+3A>G	XP_011537033.1:n.1032+3A>G
XM_006719593.3:c.1113+3A>G	XP_006719656.1:n.1113+3A>G
XM_011538731.2:c.1032+3A>G	XP_011537033.1:n.1032+3A>G
XM_017019961.1:c.897+3A>G	XP_016875450.1:n.897+3A>G
XM_017019962.2:c.-115+3A>G	XP_016875451.1:n.-115+3A>G
NM_024312.5:c.1113+3A>G MANE Select	NP_077288.2:n.1113+3A>G