Canonical Allele Identifier: CA394187002

Gene: GNPTG

Linked Data

• dbSNP Id: rs201045559
• gnomAD v2: 16-1411936-C-A
• gnomAD v4: 16-1361935-C-A
• MyVariant Identifiers: chr16:g.1411936C>A (hg19) ; chr16:g.1361935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361935C>A , CM000678.2:g.1361935C>A	GRCh38
NC_000016.9:g.1411936C>A , CM000678.1:g.1411936C>A	GRCh37
NC_000016.8:g.1351937C>A	NCBI36
NG_016985.1:g.15037C>A
NG_033129.1:g.57770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.396C>A
ENST00000529110.2:c.381C>A	ENSP00000435349.2:p.Asn127Lys
ENST00000529957.6:n.355C>A
ENST00000683366.1:c.*29C>A	ENSP00000507283.1:n.*29C>A
ENST00000683887.1:c.345C>A	ENSP00000506886.1:p.Asn115Lys
ENST00000684100.1:n.291C>A
ENST00000684126.1:n.355C>A
ENST00000684688.1:n.922C>A
ENST00000204679.9:c.297C>A MANE Select	ENSP00000204679.4:p.Asn99Lys
ENST00000204679.8:c.297C>A	ENSP00000204679.4:p.Asn99Lys
ENST00000526820.5:c.*199C>A	ENSP00000434413.1:n.*199C>A
ENST00000527076.1:n.1313C>A
ENST00000527168.5:n.333C>A
ENST00000529110.1:c.364C>A
ENST00000529957.5:n.396C>A
NM_032520.4:c.297C>A	NP_115909.1:p.Asn99Lys
XM_017023782.1:c.345C>A	XP_016879271.1:p.Asn115Lys
XM_017023783.1:c.-64C>A	XP_016879272.1:n.-64C>A
NM_032520.5:c.297C>A MANE Select	NP_115909.1:p.Asn99Lys