Canonical Allele Identifier: CA493026456

Gene: GNPTG

Linked Data

• dbSNP Id: rs76594024
• gnomAD v2: 16-1411894-G-C
• gnomAD v4: 16-1361893-G-C
• MyVariant Identifiers: chr16:g.1411894G>C (hg19) ; chr16:g.1361893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361893G>C , CM000678.2:g.1361893G>C	GRCh38
NC_000016.9:g.1411894G>C , CM000678.1:g.1411894G>C	GRCh37
NC_000016.8:g.1351895G>C	NCBI36
NG_016985.1:g.14995G>C
NG_033129.1:g.57812C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.354G>C
ENST00000529110.2:c.339G>C	ENSP00000435349.2:p.Pro113=
ENST00000529957.6:n.313G>C
ENST00000683366.1:c.200G>C	ENSP00000507283.1:p.Arg67Pro
ENST00000683887.1:c.303G>C	ENSP00000506886.1:p.Pro101=
ENST00000684100.1:n.249G>C
ENST00000684126.1:n.313G>C
ENST00000684688.1:n.880G>C
ENST00000204679.9:c.255G>C MANE Select	ENSP00000204679.4:p.Pro85=
ENST00000204679.8:c.255G>C	ENSP00000204679.4:p.Pro85=
ENST00000526820.5:c.*157G>C	ENSP00000434413.1:n.*157G>C
ENST00000527076.1:n.1271G>C
ENST00000527168.5:n.291G>C
ENST00000529110.1:c.322G>C
ENST00000529957.5:n.354G>C
NM_032520.4:c.255G>C	NP_115909.1:p.Pro85=
XM_017023782.1:c.303G>C	XP_016879271.1:p.Pro101=
XM_017023783.1:c.-106G>C	XP_016879272.1:n.-106G>C
NM_032520.5:c.255G>C MANE Select	NP_115909.1:p.Pro85=