Canonical Allele Identifier: CA7807793

Gene: GNPTG

Linked Data

• dbSNP Id: rs772485364
• ExAC: 16:1412453 T / C
• gnomAD v2: 16-1412453-T-C
• gnomAD v3: 16-1362452-T-C
• gnomAD v4: 16-1362452-T-C
• MyVariant Identifiers: chr16:g.1412453T>C (hg19) ; chr16:g.1362452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362452T>C , CM000678.2:g.1362452T>C	GRCh38
NC_000016.9:g.1412453T>C , CM000678.1:g.1412453T>C	GRCh37
NC_000016.8:g.1352454T>C	NCBI36
NG_016985.1:g.15554T>C
NG_033129.1:g.57253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626T>C
ENST00000529110.2:c.611T>C	ENSP00000435349.2:p.Val204Ala
ENST00000529957.6:n.585T>C
ENST00000683366.1:c.*259T>C	ENSP00000507283.1:n.*259T>C
ENST00000683887.1:c.575T>C	ENSP00000506886.1:p.Val192Ala
ENST00000684100.1:n.521T>C
ENST00000684126.1:n.585T>C
ENST00000684688.1:n.1152T>C
ENST00000204679.9:c.527T>C MANE Select	ENSP00000204679.4:p.Val176Ala
ENST00000204679.8:c.527T>C	ENSP00000204679.4:p.Val176Ala
ENST00000527076.1:n.1674T>C
ENST00000527168.5:n.694T>C
ENST00000529957.5:n.626T>C
NM_032520.4:c.527T>C	NP_115909.1:p.Val176Ala
XM_017023782.1:c.575T>C	XP_016879271.1:p.Val192Ala
XM_017023783.1:c.167T>C	XP_016879272.1:p.Val56Ala
NM_032520.5:c.527T>C MANE Select	NP_115909.1:p.Val176Ala