Canonical Allele Identifier: CA7807716

Gene: GNPTG

Linked Data

• dbSNP Id: rs564859061
• ExAC: 16:1412266 C / G
• gnomAD v2: 16-1412266-C-G
• gnomAD v4: 16-1362265-C-G
• MyVariant Identifiers: chr16:g.1412266C>G (hg19) ; chr16:g.1362265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362265C>G , CM000678.2:g.1362265C>G	GRCh38
NC_000016.9:g.1412266C>G , CM000678.1:g.1412266C>G	GRCh37
NC_000016.8:g.1352267C>G	NCBI36
NG_016985.1:g.15367C>G
NG_033129.1:g.57440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.570C>G
ENST00000529110.2:c.555C>G	ENSP00000435349.2:p.Cys185Trp
ENST00000529957.6:n.529C>G
ENST00000683366.1:c.*203C>G	ENSP00000507283.1:n.*203C>G
ENST00000683887.1:c.519C>G	ENSP00000506886.1:p.Cys173Trp
ENST00000684100.1:n.465C>G
ENST00000684126.1:n.529C>G
ENST00000684688.1:n.1096C>G
ENST00000204679.9:c.471C>G MANE Select	ENSP00000204679.4:p.Cys157Trp
ENST00000204679.8:c.471C>G	ENSP00000204679.4:p.Cys157Trp
ENST00000527076.1:n.1487C>G
ENST00000527168.5:n.507C>G
ENST00000529110.1:c.538C>G
ENST00000529957.5:n.570C>G
NM_032520.4:c.471C>G	NP_115909.1:p.Cys157Trp
XM_017023782.1:c.519C>G	XP_016879271.1:p.Cys173Trp
XM_017023783.1:c.111C>G	XP_016879272.1:p.Cys37Trp
NM_032520.5:c.471C>G MANE Select	NP_115909.1:p.Cys157Trp