Canonical Allele Identifier: CA394186765

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411880T>C (hg19) ; chr16:g.1361879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361879T>C , CM000678.2:g.1361879T>C	GRCh38
NC_000016.9:g.1411880T>C , CM000678.1:g.1411880T>C	GRCh37
NC_000016.8:g.1351881T>C	NCBI36
NG_016985.1:g.14981T>C
NG_033129.1:g.57826A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.340T>C
ENST00000529110.2:c.325T>C	ENSP00000435349.2:p.Tyr109His
ENST00000529957.6:n.299T>C
ENST00000683366.1:c.186T>C	ENSP00000507283.1:p.Ser62=
ENST00000683887.1:c.289T>C	ENSP00000506886.1:p.Tyr97His
ENST00000684100.1:n.235T>C
ENST00000684126.1:n.299T>C
ENST00000684688.1:n.866T>C
ENST00000204679.9:c.241T>C MANE Select	ENSP00000204679.4:p.Tyr81His
ENST00000204679.8:c.241T>C	ENSP00000204679.4:p.Tyr81His
ENST00000526820.5:c.*143T>C	ENSP00000434413.1:n.*143T>C
ENST00000527076.1:n.1257T>C
ENST00000527168.5:n.277T>C
ENST00000529110.1:c.308T>C
ENST00000529957.5:n.340T>C
NM_032520.4:c.241T>C	NP_115909.1:p.Tyr81His
XM_017023782.1:c.289T>C	XP_016879271.1:p.Tyr97His
XM_017023783.1:c.-120T>C	XP_016879272.1:n.-120T>C
NM_032520.5:c.241T>C MANE Select	NP_115909.1:p.Tyr81His