Canonical Allele Identifier: CA394188441

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362643-G-C
• MyVariant Identifiers: chr16:g.1412644G>C (hg19) ; chr16:g.1362643G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362643G>C , CM000678.2:g.1362643G>C	GRCh38
NC_000016.9:g.1412644G>C , CM000678.1:g.1412644G>C	GRCh37
NC_000016.8:g.1352645G>C	NCBI36
NG_016985.1:g.15745G>C
NG_033129.1:g.57062C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.741G>C
ENST00000529110.2:c.726G>C	ENSP00000435349.2:p.Glu242Asp
ENST00000529957.6:n.700G>C
ENST00000683366.1:c.*374G>C	ENSP00000507283.1:n.*374G>C
ENST00000683887.1:c.690G>C	ENSP00000506886.1:p.Glu230Asp
ENST00000684100.1:n.636G>C
ENST00000684126.1:n.776G>C
ENST00000684688.1:n.1267G>C
ENST00000204679.9:c.642G>C MANE Select	ENSP00000204679.4:p.Glu214Asp
ENST00000204679.8:c.642G>C	ENSP00000204679.4:p.Glu214Asp
ENST00000527076.1:n.1865G>C
ENST00000527168.5:n.809G>C
ENST00000529957.5:n.741G>C
NM_032520.4:c.642G>C	NP_115909.1:p.Glu214Asp
XM_017023782.1:c.690G>C	XP_016879271.1:p.Glu230Asp
XM_017023783.1:c.282G>C	XP_016879272.1:p.Glu94Asp
NM_032520.5:c.642G>C MANE Select	NP_115909.1:p.Glu214Asp