Canonical Allele Identifier: CA493026464

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361905-G-C
• MyVariant Identifiers: chr16:g.1411906G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361905G>C , CM000678.2:g.1361905G>C	GRCh38
NC_000016.9:g.1411906G>C , CM000678.1:g.1411906G>C	GRCh37
NC_000016.8:g.1351907G>C	NCBI36
NG_016985.1:g.15007G>C
NG_033129.1:g.57800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.366G>C
ENST00000529110.2:c.351G>C	ENSP00000435349.2:p.Val117=
ENST00000529957.6:n.325G>C
ENST00000683366.1:c.212G>C	ENSP00000507283.1:p.Ter71Ser
ENST00000683887.1:c.315G>C	ENSP00000506886.1:p.Val105=
ENST00000684100.1:n.261G>C
ENST00000684126.1:n.325G>C
ENST00000684688.1:n.892G>C
ENST00000204679.9:c.267G>C MANE Select	ENSP00000204679.4:p.Val89=
ENST00000204679.8:c.267G>C	ENSP00000204679.4:p.Val89=
ENST00000526820.5:c.*169G>C	ENSP00000434413.1:n.*169G>C
ENST00000527076.1:n.1283G>C
ENST00000527168.5:n.303G>C
ENST00000529110.1:c.334G>C
ENST00000529957.5:n.366G>C
NM_032520.4:c.267G>C	NP_115909.1:p.Val89=
XM_017023782.1:c.315G>C	XP_016879271.1:p.Val105=
XM_017023783.1:c.-94G>C	XP_016879272.1:n.-94G>C
NM_032520.5:c.267G>C MANE Select	NP_115909.1:p.Val89=