Canonical Allele Identifier: CA394187079

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361954-G-T
• MyVariant Identifiers: chr16:g.1411955G>T (hg19) ; chr16:g.1361954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361954G>T , CM000678.2:g.1361954G>T	GRCh38
NC_000016.9:g.1411955G>T , CM000678.1:g.1411955G>T	GRCh37
NC_000016.8:g.1351956G>T	NCBI36
NG_016985.1:g.15056G>T
NG_033129.1:g.57751C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.415G>T
ENST00000529110.2:c.400G>T	ENSP00000435349.2:p.Gly134Cys
ENST00000529957.6:n.374G>T
ENST00000683366.1:c.*48G>T	ENSP00000507283.1:n.*48G>T
ENST00000683887.1:c.364G>T	ENSP00000506886.1:p.Gly122Cys
ENST00000684100.1:n.310G>T
ENST00000684126.1:n.374G>T
ENST00000684688.1:n.941G>T
ENST00000204679.9:c.316G>T MANE Select	ENSP00000204679.4:p.Gly106Cys
ENST00000204679.8:c.316G>T	ENSP00000204679.4:p.Gly106Cys
ENST00000526820.5:c.*218G>T	ENSP00000434413.1:n.*218G>T
ENST00000527076.1:n.1332G>T
ENST00000527168.5:n.352G>T
ENST00000529110.1:c.383G>T
ENST00000529957.5:n.415G>T
NM_032520.4:c.316G>T	NP_115909.1:p.Gly106Cys
XM_017023782.1:c.364G>T	XP_016879271.1:p.Gly122Cys
XM_017023783.1:c.-45G>T	XP_016879272.1:n.-45G>T
NM_032520.5:c.316G>T MANE Select	NP_115909.1:p.Gly106Cys