Canonical Allele Identifier: CA7807549

Gene: GNPTG

Linked Data

• dbSNP Id: rs201381376
• ExAC: 16:1411842 C / T
• gnomAD v2: 16-1411842-C-T
• gnomAD v3: 16-1361841-C-T
• gnomAD v4: 16-1361841-C-T
• MyVariant Identifiers: chr16:g.1411842C>T (hg19) ; chr16:g.1361841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361841C>T , CM000678.2:g.1361841C>T	GRCh38
NC_000016.9:g.1411842C>T , CM000678.1:g.1411842C>T	GRCh37
NC_000016.8:g.1351843C>T	NCBI36
NG_016985.1:g.14943C>T
NG_033129.1:g.57864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.333-31C>T
ENST00000529110.2:c.318-31C>T	ENSP00000435349.2:n.318-31C>T
ENST00000529957.6:n.292-31C>T
ENST00000683366.1:c.179-31C>T	ENSP00000507283.1:n.179-31C>T
ENST00000683887.1:c.282-31C>T	ENSP00000506886.1:n.282-31C>T
ENST00000684100.1:n.197C>T
ENST00000684126.1:n.292-31C>T
ENST00000684688.1:n.859-31C>T
ENST00000204679.9:c.234-31C>T MANE Select	ENSP00000204679.4:n.234-31C>T
ENST00000204679.8:c.234-31C>T	ENSP00000204679.4:n.234-31C>T
ENST00000526820.5:c.*136-31C>T	ENSP00000434413.1:n.*136-31C>T
ENST00000527076.1:n.1219C>T
ENST00000527168.5:n.270-31C>T
ENST00000529110.1:c.301-31C>T
ENST00000529957.5:n.333-31C>T
NM_032520.4:c.234-31C>T	NP_115909.1:n.234-31C>T
XM_017023782.1:c.282-31C>T	XP_016879271.1:n.282-31C>T
XM_017023783.1:c.-127-31C>T	XP_016879272.1:n.-127-31C>T
NM_032520.5:c.234-31C>T MANE Select	NP_115909.1:n.234-31C>T