Canonical Allele Identifier: CA7807599

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2060744
• ClinVar RCV Id: RCV002947955
• dbSNP Id: rs370815540
• ExAC: 16:1411960 A / T
• gnomAD v2: 16-1411960-A-T
• gnomAD v4: 16-1361959-A-T
• MyVariant Identifiers: chr16:g.1411960A>T (hg19) ; chr16:g.1361959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361959A>T , CM000678.2:g.1361959A>T	GRCh38
NC_000016.9:g.1411960A>T , CM000678.1:g.1411960A>T	GRCh37
NC_000016.8:g.1351961A>T	NCBI36
NG_016985.1:g.15061A>T
NG_033129.1:g.57746T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+4A>T
ENST00000529110.2:c.401+4A>T	ENSP00000435349.2:n.401+4A>T
ENST00000529957.6:n.375+4A>T
ENST00000683366.1:c.*49+4A>T	ENSP00000507283.1:n.*49+4A>T
ENST00000683887.1:c.365+4A>T	ENSP00000506886.1:n.365+4A>T
ENST00000684100.1:n.311+4A>T
ENST00000684126.1:n.375+4A>T
ENST00000684688.1:n.942+4A>T
ENST00000204679.9:c.317+4A>T MANE Select	ENSP00000204679.4:n.317+4A>T
ENST00000204679.8:c.317+4A>T	ENSP00000204679.4:n.317+4A>T
ENST00000526820.5:c.*219+4A>T	ENSP00000434413.1:n.*219+4A>T
ENST00000527076.1:n.1333+4A>T
ENST00000527168.5:n.353+4A>T
ENST00000529110.1:c.384+4A>T
ENST00000529957.5:n.416+4A>T
NM_032520.4:c.317+4A>T	NP_115909.1:n.317+4A>T
XM_017023782.1:c.365+4A>T	XP_016879271.1:n.365+4A>T
XM_017023783.1:c.-44+4A>T	XP_016879272.1:n.-44+4A>T
NM_032520.5:c.317+4A>T MANE Select	NP_115909.1:n.317+4A>T