Canonical Allele Identifier: CA7807860

Gene: GNPTG

Linked Data

• dbSNP Id: rs768131774
• ExAC: 16:1412640 T / C
• gnomAD v2: 16-1412640-T-C
• gnomAD v4: 16-1362639-T-C
• MyVariant Identifiers: chr16:g.1412640T>C (hg19) ; chr16:g.1362639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362639T>C , CM000678.2:g.1362639T>C	GRCh38
NC_000016.9:g.1412640T>C , CM000678.1:g.1412640T>C	GRCh37
NC_000016.8:g.1352641T>C	NCBI36
NG_016985.1:g.15741T>C
NG_033129.1:g.57066A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.737T>C
ENST00000529110.2:c.722T>C	ENSP00000435349.2:p.Phe241Ser
ENST00000529957.6:n.696T>C
ENST00000683366.1:c.*370T>C	ENSP00000507283.1:n.*370T>C
ENST00000683887.1:c.686T>C	ENSP00000506886.1:p.Phe229Ser
ENST00000684100.1:n.632T>C
ENST00000684126.1:n.772T>C
ENST00000684688.1:n.1263T>C
ENST00000204679.9:c.638T>C MANE Select	ENSP00000204679.4:p.Phe213Ser
ENST00000204679.8:c.638T>C	ENSP00000204679.4:p.Phe213Ser
ENST00000527076.1:n.1861T>C
ENST00000527168.5:n.805T>C
ENST00000529957.5:n.737T>C
NM_032520.4:c.638T>C	NP_115909.1:p.Phe213Ser
XM_017023782.1:c.686T>C	XP_016879271.1:p.Phe229Ser
XM_017023783.1:c.278T>C	XP_016879272.1:p.Phe93Ser
NM_032520.5:c.638T>C MANE Select	NP_115909.1:p.Phe213Ser