Canonical Allele Identifier: CA394186594

Gene: GNPTG

Linked Data

• dbSNP Id: rs1250829137
• gnomAD v3: 16-1361781-A-C
• gnomAD v4: 16-1361781-A-C
• MyVariant Identifiers: chr16:g.1411782A>C (hg19) ; chr16:g.1361781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361781A>C , CM000678.2:g.1361781A>C	GRCh38
NC_000016.9:g.1411782A>C , CM000678.1:g.1411782A>C	GRCh37
NC_000016.8:g.1351783A>C	NCBI36
NG_016985.1:g.14883A>C
NG_033129.1:g.57924T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.316A>C
ENST00000529110.2:c.301A>C	ENSP00000435349.2:p.Ser101Arg
ENST00000529957.6:n.275A>C
ENST00000683366.1:c.179-91A>C	ENSP00000507283.1:n.179-91A>C
ENST00000683887.1:c.265A>C	ENSP00000506886.1:p.Ser89Arg
ENST00000684100.1:n.137A>C
ENST00000684126.1:n.275A>C
ENST00000684688.1:n.842A>C
ENST00000204679.9:c.217A>C MANE Select	ENSP00000204679.4:p.Ser73Arg
ENST00000204679.8:c.217A>C	ENSP00000204679.4:p.Ser73Arg
ENST00000526820.5:c.*119A>C	ENSP00000434413.1:n.*119A>C
ENST00000527076.1:n.1159A>C
ENST00000527168.5:n.270-91A>C
ENST00000529110.1:c.284A>C
ENST00000529957.5:n.316A>C
NM_032520.4:c.217A>C	NP_115909.1:p.Ser73Arg
XM_017023782.1:c.265A>C	XP_016879271.1:p.Ser89Arg
XM_017023783.1:c.-144A>C	XP_016879272.1:n.-144A>C
NM_032520.5:c.217A>C MANE Select	NP_115909.1:p.Ser73Arg