Canonical Allele Identifier: CA7807927

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 3016140
• ClinVar RCV Id: RCV003876291
• dbSNP Id: rs555595061
• ExAC: 16:1412811 T / C
• gnomAD v2: 16-1412811-T-C
• gnomAD v3: 16-1362810-T-C
• gnomAD v4: 16-1362810-T-C
• MyVariant Identifiers: chr16:g.1412811T>C (hg19) ; chr16:g.1362810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362810T>C , CM000678.2:g.1362810T>C	GRCh38
NC_000016.9:g.1412811T>C , CM000678.1:g.1412811T>C	GRCh37
NC_000016.8:g.1352812T>C	NCBI36
NG_016985.1:g.15912T>C
NG_033129.1:g.56895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-15T>C
ENST00000529110.2:c.826-15T>C	ENSP00000435349.2:n.826-15T>C
ENST00000529957.6:n.800-15T>C
ENST00000683366.1:c.*474-15T>C	ENSP00000507283.1:n.*474-15T>C
ENST00000683887.1:c.790-15T>C	ENSP00000506886.1:n.790-15T>C
ENST00000684100.1:n.736-15T>C
ENST00000684126.1:n.876-15T>C
ENST00000684688.1:n.1367-15T>C
ENST00000204679.9:c.742-15T>C MANE Select	ENSP00000204679.4:n.742-15T>C
ENST00000204679.8:c.742-15T>C	ENSP00000204679.4:n.742-15T>C
ENST00000527076.1:n.1965-15T>C
ENST00000527168.5:n.909-15T>C
ENST00000529957.5:n.841-15T>C
NM_032520.4:c.742-15T>C	NP_115909.1:n.742-15T>C
XM_017023782.1:c.790-15T>C	XP_016879271.1:n.790-15T>C
XM_017023783.1:c.382-15T>C	XP_016879272.1:n.382-15T>C
NM_032520.5:c.742-15T>C MANE Select	NP_115909.1:n.742-15T>C