Canonical Allele Identifier: CA394187234

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2052837
• ClinVar RCV Id: RCV002937748
• MyVariant Identifiers: chr16:g.1412064A>C (hg19) ; chr16:g.1362063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362063A>C , CM000678.2:g.1362063A>C	GRCh38
NC_000016.9:g.1412064A>C , CM000678.1:g.1412064A>C	GRCh37
NC_000016.8:g.1352065A>C	NCBI36
NG_016985.1:g.15165A>C
NG_033129.1:g.57642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.442A>C
ENST00000529110.2:c.427A>C	ENSP00000435349.2:p.Asn143His
ENST00000529957.6:n.401A>C
ENST00000683366.1:c.*75A>C	ENSP00000507283.1:n.*75A>C
ENST00000683887.1:c.391A>C	ENSP00000506886.1:p.Asn131His
ENST00000684100.1:n.337A>C
ENST00000684126.1:n.401A>C
ENST00000684688.1:n.968A>C
ENST00000204679.9:c.343A>C MANE Select	ENSP00000204679.4:p.Asn115His
ENST00000204679.8:c.343A>C	ENSP00000204679.4:p.Asn115His
ENST00000526820.5:c.*245A>C	ENSP00000434413.1:n.*245A>C
ENST00000527076.1:n.1359A>C
ENST00000527168.5:n.379A>C
ENST00000529110.1:c.410A>C
ENST00000529957.5:n.442A>C
NM_032520.4:c.343A>C	NP_115909.1:p.Asn115His
XM_017023782.1:c.391A>C	XP_016879271.1:p.Asn131His
XM_017023783.1:c.-18A>C	XP_016879272.1:n.-18A>C
NM_032520.5:c.343A>C MANE Select	NP_115909.1:p.Asn115His