Canonical Allele Identifier: CA276657968

Gene: GNPTG

Linked Data

• dbSNP Id: rs576693410
• gnomAD v2: 16-1412400-G-T
• gnomAD v3: 16-1362399-G-T
• gnomAD v4: 16-1362399-G-T
• MyVariant Identifiers: chr16:g.1412400G>T (hg19) ; chr16:g.1362399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362399G>T , CM000678.2:g.1362399G>T	GRCh38
NC_000016.9:g.1412400G>T , CM000678.1:g.1412400G>T	GRCh37
NC_000016.8:g.1352401G>T	NCBI36
NG_016985.1:g.15501G>T
NG_033129.1:g.57306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-53G>T
ENST00000529110.2:c.611-53G>T	ENSP00000435349.2:n.611-53G>T
ENST00000529957.6:n.585-53G>T
ENST00000683366.1:c.*259-53G>T	ENSP00000507283.1:n.*259-53G>T
ENST00000683887.1:c.575-53G>T	ENSP00000506886.1:n.575-53G>T
ENST00000684100.1:n.521-53G>T
ENST00000684126.1:n.585-53G>T
ENST00000684688.1:n.1152-53G>T
ENST00000204679.9:c.527-53G>T MANE Select	ENSP00000204679.4:n.527-53G>T
ENST00000204679.8:c.527-53G>T	ENSP00000204679.4:n.527-53G>T
ENST00000527076.1:n.1621G>T
ENST00000527168.5:n.641G>T
ENST00000529957.5:n.626-53G>T
NM_032520.4:c.527-53G>T	NP_115909.1:n.527-53G>T
XM_017023782.1:c.575-53G>T	XP_016879271.1:n.575-53G>T
XM_017023783.1:c.167-53G>T	XP_016879272.1:n.167-53G>T
NM_032520.5:c.527-53G>T MANE Select	NP_115909.1:n.527-53G>T