Canonical Allele Identifier: CA394186958

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361921-A-G
• MyVariant Identifiers: chr16:g.1411922A>G (hg19) ; chr16:g.1361921A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361921A>G , CM000678.2:g.1361921A>G	GRCh38
NC_000016.9:g.1411922A>G , CM000678.1:g.1411922A>G	GRCh37
NC_000016.8:g.1351923A>G	NCBI36
NG_016985.1:g.15023A>G
NG_033129.1:g.57784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.382A>G
ENST00000529110.2:c.367A>G	ENSP00000435349.2:p.Thr123Ala
ENST00000529957.6:n.341A>G
ENST00000683366.1:c.*15A>G	ENSP00000507283.1:n.*15A>G
ENST00000683887.1:c.331A>G	ENSP00000506886.1:p.Thr111Ala
ENST00000684100.1:n.277A>G
ENST00000684126.1:n.341A>G
ENST00000684688.1:n.908A>G
ENST00000204679.9:c.283A>G MANE Select	ENSP00000204679.4:p.Thr95Ala
ENST00000204679.8:c.283A>G	ENSP00000204679.4:p.Thr95Ala
ENST00000526820.5:c.*185A>G	ENSP00000434413.1:n.*185A>G
ENST00000527076.1:n.1299A>G
ENST00000527168.5:n.319A>G
ENST00000529110.1:c.350A>G
ENST00000529957.5:n.382A>G
NM_032520.4:c.283A>G	NP_115909.1:p.Thr95Ala
XM_017023782.1:c.331A>G	XP_016879271.1:p.Thr111Ala
XM_017023783.1:c.-78A>G	XP_016879272.1:n.-78A>G
NM_032520.5:c.283A>G MANE Select	NP_115909.1:p.Thr95Ala