Canonical Allele Identifier: CA7807566

Gene: GNPTG

Linked Data

• dbSNP Id: rs748941730
• ExAC: 16:1411882 T / C
• gnomAD v2: 16-1411882-T-C
• gnomAD v4: 16-1361881-T-C
• MyVariant Identifiers: chr16:g.1411882T>C (hg19) ; chr16:g.1361881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361881T>C , CM000678.2:g.1361881T>C	GRCh38
NC_000016.9:g.1411882T>C , CM000678.1:g.1411882T>C	GRCh37
NC_000016.8:g.1351883T>C	NCBI36
NG_016985.1:g.14983T>C
NG_033129.1:g.57824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.342T>C
ENST00000529110.2:c.327T>C	ENSP00000435349.2:p.Tyr109=
ENST00000529957.6:n.301T>C
ENST00000683366.1:c.188T>C	ENSP00000507283.1:p.Met63Thr
ENST00000683887.1:c.291T>C	ENSP00000506886.1:p.Tyr97=
ENST00000684100.1:n.237T>C
ENST00000684126.1:n.301T>C
ENST00000684688.1:n.868T>C
ENST00000204679.9:c.243T>C MANE Select	ENSP00000204679.4:p.Tyr81=
ENST00000204679.8:c.243T>C	ENSP00000204679.4:p.Tyr81=
ENST00000526820.5:c.*145T>C	ENSP00000434413.1:n.*145T>C
ENST00000527076.1:n.1259T>C
ENST00000527168.5:n.279T>C
ENST00000529110.1:c.310T>C
ENST00000529957.5:n.342T>C
NM_032520.4:c.243T>C	NP_115909.1:p.Tyr81=
XM_017023782.1:c.291T>C	XP_016879271.1:p.Tyr97=
XM_017023783.1:c.-118T>C	XP_016879272.1:n.-118T>C
NM_032520.5:c.243T>C MANE Select	NP_115909.1:p.Tyr81=