Canonical Allele Identifier: CA620700226

Gene: GNPTG

Linked Data

• dbSNP Id: rs545803225
• gnomAD v2: 16-1412405-G-C
• gnomAD v3: 16-1362404-G-C
• gnomAD v4: 16-1362404-G-C
• MyVariant Identifiers: chr16:g.1412405G>C (hg19) ; chr16:g.1362404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362404G>C , CM000678.2:g.1362404G>C	GRCh38
NC_000016.9:g.1412405G>C , CM000678.1:g.1412405G>C	GRCh37
NC_000016.8:g.1352406G>C	NCBI36
NG_016985.1:g.15506G>C
NG_033129.1:g.57301C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-48G>C
ENST00000529110.2:c.611-48G>C	ENSP00000435349.2:n.611-48G>C
ENST00000529957.6:n.585-48G>C
ENST00000683366.1:c.*259-48G>C	ENSP00000507283.1:n.*259-48G>C
ENST00000683887.1:c.575-48G>C	ENSP00000506886.1:n.575-48G>C
ENST00000684100.1:n.521-48G>C
ENST00000684126.1:n.585-48G>C
ENST00000684688.1:n.1152-48G>C
ENST00000204679.9:c.527-48G>C MANE Select	ENSP00000204679.4:n.527-48G>C
ENST00000204679.8:c.527-48G>C	ENSP00000204679.4:n.527-48G>C
ENST00000527076.1:n.1626G>C
ENST00000527168.5:n.646G>C
ENST00000529957.5:n.626-48G>C
NM_032520.4:c.527-48G>C	NP_115909.1:n.527-48G>C
XM_017023782.1:c.575-48G>C	XP_016879271.1:n.575-48G>C
XM_017023783.1:c.167-48G>C	XP_016879272.1:n.167-48G>C
NM_032520.5:c.527-48G>C MANE Select	NP_115909.1:n.527-48G>C