Canonical Allele Identifier: CA2201614002

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034888726
• gnomAD v4: 16-1361854-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361854T>C , CM000678.2:g.1361854T>C	GRCh38
NC_000016.9:g.1411855T>C , CM000678.1:g.1411855T>C	GRCh37
NC_000016.8:g.1351856T>C	NCBI36
NG_016985.1:g.14956T>C
NG_033129.1:g.57851A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.333-18T>C
ENST00000529110.2:c.318-18T>C	ENSP00000435349.2:n.318-18T>C
ENST00000529957.6:n.292-18T>C
ENST00000683366.1:c.179-18T>C	ENSP00000507283.1:n.179-18T>C
ENST00000683887.1:c.282-18T>C	ENSP00000506886.1:n.282-18T>C
ENST00000684100.1:n.210T>C
ENST00000684126.1:n.292-18T>C
ENST00000684688.1:n.859-18T>C
ENST00000204679.9:c.234-18T>C MANE Select	ENSP00000204679.4:n.234-18T>C
ENST00000204679.8:c.234-18T>C	ENSP00000204679.4:n.234-18T>C
ENST00000526820.5:c.*136-18T>C	ENSP00000434413.1:n.*136-18T>C
ENST00000527076.1:n.1232T>C
ENST00000527168.5:n.270-18T>C
ENST00000529110.1:c.301-18T>C
ENST00000529957.5:n.333-18T>C
NM_032520.4:c.234-18T>C	NP_115909.1:n.234-18T>C
XM_017023782.1:c.282-18T>C	XP_016879271.1:n.282-18T>C
XM_017023783.1:c.-127-18T>C	XP_016879272.1:n.-127-18T>C
NM_032520.5:c.234-18T>C MANE Select	NP_115909.1:n.234-18T>C