Canonical Allele Identifier: CA394187314

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362097-G-C
• MyVariant Identifiers: chr16:g.1412098G>C (hg19) ; chr16:g.1362097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362097G>C , CM000678.2:g.1362097G>C	GRCh38
NC_000016.9:g.1412098G>C , CM000678.1:g.1412098G>C	GRCh37
NC_000016.8:g.1352099G>C	NCBI36
NG_016985.1:g.15199G>C
NG_033129.1:g.57608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.476G>C
ENST00000529110.2:c.461G>C	ENSP00000435349.2:p.Gly154Ala
ENST00000529957.6:n.435G>C
ENST00000683366.1:c.*109G>C	ENSP00000507283.1:n.*109G>C
ENST00000683887.1:c.425G>C	ENSP00000506886.1:p.Gly142Ala
ENST00000684100.1:n.371G>C
ENST00000684126.1:n.435G>C
ENST00000684688.1:n.1002G>C
ENST00000204679.9:c.377G>C MANE Select	ENSP00000204679.4:p.Gly126Ala
ENST00000204679.8:c.377G>C	ENSP00000204679.4:p.Gly126Ala
ENST00000526820.5:c.*279G>C	ENSP00000434413.1:n.*279G>C
ENST00000527076.1:n.1393G>C
ENST00000527168.5:n.413G>C
ENST00000529110.1:c.444G>C
ENST00000529957.5:n.476G>C
NM_032520.4:c.377G>C	NP_115909.1:p.Gly126Ala
XM_017023782.1:c.425G>C	XP_016879271.1:p.Gly142Ala
XM_017023783.1:c.17G>C	XP_016879272.1:p.Gly6Ala
NM_032520.5:c.377G>C MANE Select	NP_115909.1:p.Gly126Ala