Canonical Allele Identifier: CA344275

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 41257
• ClinVar RCV Id: RCV000034158 ; RCV001175027 ; RCV001852694
• dbSNP Id: rs397507562
• gnomAD v3: 12-101757311-C-G
• gnomAD v4: 12-101757311-C-G
• MyVariant Identifiers: chr12:g.102151089C>G (hg19) ; chr12:g.101757311C>G (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

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

Transcript Alleles

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