Canonical Allele Identifier: CA394187797

Gene: GNPTG

Linked Data

• dbSNP Id: rs1214962654
• gnomAD v2: 16-1412258-A-C
• gnomAD v4: 16-1362257-A-C
• MyVariant Identifiers: chr16:g.1412258A>C (hg19) ; chr16:g.1362257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362257A>C , CM000678.2:g.1362257A>C	GRCh38
NC_000016.9:g.1412258A>C , CM000678.1:g.1412258A>C	GRCh37
NC_000016.8:g.1352259A>C	NCBI36
NG_016985.1:g.15359A>C
NG_033129.1:g.57448T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.562A>C
ENST00000529110.2:c.547A>C	ENSP00000435349.2:p.Ser183Arg
ENST00000529957.6:n.521A>C
ENST00000683366.1:c.*195A>C	ENSP00000507283.1:n.*195A>C
ENST00000683887.1:c.511A>C	ENSP00000506886.1:p.Ser171Arg
ENST00000684100.1:n.457A>C
ENST00000684126.1:n.521A>C
ENST00000684688.1:n.1088A>C
ENST00000204679.9:c.463A>C MANE Select	ENSP00000204679.4:p.Ser155Arg
ENST00000204679.8:c.463A>C	ENSP00000204679.4:p.Ser155Arg
ENST00000527076.1:n.1479A>C
ENST00000527168.5:n.499A>C
ENST00000529110.1:c.530A>C
ENST00000529957.5:n.562A>C
NM_032520.4:c.463A>C	NP_115909.1:p.Ser155Arg
XM_017023782.1:c.511A>C	XP_016879271.1:p.Ser171Arg
XM_017023783.1:c.103A>C	XP_016879272.1:p.Ser35Arg
NM_032520.5:c.463A>C MANE Select	NP_115909.1:p.Ser155Arg