Canonical Allele Identifier: CA493026462

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1154032
• ClinVar RCV Id: RCV001495916
• dbSNP Id: rs1382348960
• gnomAD v2: 16-1411906-G-A
• gnomAD v4: 16-1361905-G-A
• MyVariant Identifiers: chr16:g.1411906G>A (hg19) ; chr16:g.1361905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361905G>A , CM000678.2:g.1361905G>A	GRCh38
NC_000016.9:g.1411906G>A , CM000678.1:g.1411906G>A	GRCh37
NC_000016.8:g.1351907G>A	NCBI36
NG_016985.1:g.15007G>A
NG_033129.1:g.57800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.366G>A
ENST00000529110.2:c.351G>A	ENSP00000435349.2:p.Val117=
ENST00000529957.6:n.325G>A
ENST00000683366.1:c.212G>A	ENSP00000507283.1:p.Ter71=
ENST00000683887.1:c.315G>A	ENSP00000506886.1:p.Val105=
ENST00000684100.1:n.261G>A
ENST00000684126.1:n.325G>A
ENST00000684688.1:n.892G>A
ENST00000204679.9:c.267G>A MANE Select	ENSP00000204679.4:p.Val89=
ENST00000204679.8:c.267G>A	ENSP00000204679.4:p.Val89=
ENST00000526820.5:c.*169G>A	ENSP00000434413.1:n.*169G>A
ENST00000527076.1:n.1283G>A
ENST00000527168.5:n.303G>A
ENST00000529110.1:c.334G>A
ENST00000529957.5:n.366G>A
NM_032520.4:c.267G>A	NP_115909.1:p.Val89=
XM_017023782.1:c.315G>A	XP_016879271.1:p.Val105=
XM_017023783.1:c.-94G>A	XP_016879272.1:n.-94G>A
NM_032520.5:c.267G>A MANE Select	NP_115909.1:p.Val89=