Canonical Allele Identifier: CA493026523

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034906773
• gnomAD v3: 16-1362268-C-A
• gnomAD v4: 16-1362268-C-A
• MyVariant Identifiers: chr16:g.1412269C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362268C>A , CM000678.2:g.1362268C>A	GRCh38
NC_000016.9:g.1412269C>A , CM000678.1:g.1412269C>A	GRCh37
NC_000016.8:g.1352270C>A	NCBI36
NG_016985.1:g.15370C>A
NG_033129.1:g.57437G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.573C>A
ENST00000529110.2:c.558C>A	ENSP00000435349.2:p.Val186=
ENST00000529957.6:n.532C>A
ENST00000683366.1:c.*206C>A	ENSP00000507283.1:n.*206C>A
ENST00000683887.1:c.522C>A	ENSP00000506886.1:p.Val174=
ENST00000684100.1:n.468C>A
ENST00000684126.1:n.532C>A
ENST00000684688.1:n.1099C>A
ENST00000204679.9:c.474C>A MANE Select	ENSP00000204679.4:p.Val158=
ENST00000204679.8:c.474C>A	ENSP00000204679.4:p.Val158=
ENST00000527076.1:n.1490C>A
ENST00000527168.5:n.510C>A
ENST00000529110.1:c.541C>A
ENST00000529957.5:n.573C>A
NM_032520.4:c.474C>A	NP_115909.1:p.Val158=
XM_017023782.1:c.522C>A	XP_016879271.1:p.Val174=
XM_017023783.1:c.114C>A	XP_016879272.1:p.Val38=
NM_032520.5:c.474C>A MANE Select	NP_115909.1:p.Val158=