Canonical Allele Identifier: CA7807443

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1351993T>C , CM000678.2:g.1351993T>C	GRCh38
NC_000016.9:g.1401994T>C , CM000678.1:g.1401994T>C	GRCh37
NC_000016.8:g.1341995T>C	NCBI36
NG_016985.1:g.5095T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.28T>C MANE Select	NP_115909.1:p.Leu10=
ENST00000204679.9:c.28T>C MANE Select	ENSP00000204679.4:p.Leu10=
NM_032520.4:c.28T>C	NP_115909.1:p.Leu10=
ENST00000204679.8:c.28T>C	ENSP00000204679.4:p.Leu10=
ENST00000526820.5:c.28T>C	ENSP00000434413.1:p.Leu10=
ENST00000527137.2:c.28T>C	ENSP00000480060.1:p.Leu10=
ENST00000527168.5:n.40T>C
ENST00000527168.6:n.48T>C
ENST00000527876.5:c.28T>C	ENSP00000460728.1:p.Leu10=
ENST00000529110.1:c.11T>C
ENST00000529110.2:c.28T>C	ENSP00000435349.2:p.Leu10=
ENST00000529957.5:n.48T>C
ENST00000534197.5:n.46T>C
ENST00000683366.1:c.28T>C	ENSP00000507283.1:p.Leu10=
ENST00000683887.1:c.28T>C	ENSP00000506886.1:p.Leu10=
XM_017023782.1:c.28T>C	XP_016879271.1:p.Leu10=