Canonical Allele Identifier: CA2499221382

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1079398
• ClinVar RCV Id: RCV001394672
• dbSNP Id: rs2137107300

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757667A>C , CM000674.2:g.101757667A>C	GRCh38
NC_000012.11:g.102151445A>C , CM000674.1:g.102151445A>C	GRCh37
NC_000012.10:g.100675576A>C	NCBI36
NG_021243.1:g.78201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3250-10T>G MANE Select	ENSP00000299314.7:n.3250-10T>G
ENST00000299314.11:c.3250-10T>G	ENSP00000299314.7:n.3250-10T>G
ENST00000549194.1:n.116-10T>G
ENST00000550718.1:c.62-10T>G
NM_024312.4:c.3250-10T>G	NP_077288.2:n.3250-10T>G
XM_006719593.2:c.3250-10T>G	XP_006719656.1:n.3250-10T>G
XM_011538731.1:c.3169-10T>G	XP_011537033.1:n.3169-10T>G
XM_006719593.3:c.3250-10T>G	XP_006719656.1:n.3250-10T>G
XM_011538731.2:c.3169-10T>G	XP_011537033.1:n.3169-10T>G
XM_017019961.1:c.3034-10T>G	XP_016875450.1:n.3034-10T>G
XM_017019962.2:c.2023-10T>G	XP_016875451.1:n.2023-10T>G
NM_024312.5:c.3250-10T>G MANE Select	NP_077288.2:n.3250-10T>G