Canonical Allele Identifier: CA276642445
Community Standard Title: NM_032520.5(GNPTG):c.7G>A (p.Ala3Thr)
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1351972G>A , CM000678.2:g.1351972G>A GRCh38
NC_000016.9:g.1401973G>A , CM000678.1:g.1401973G>A GRCh37
NC_000016.8:g.1341974G>A NCBI36
NG_016985.1:g.5074G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032520.5:c.7G>A MANE Select NP_115909.1:p.Ala3Thr
ENST00000204679.9:c.7G>A MANE Select ENSP00000204679.4:p.Ala3Thr
NM_032520.4:c.7G>A NP_115909.1:p.Ala3Thr
ENST00000204679.8:c.7G>A ENSP00000204679.4:p.Ala3Thr
ENST00000526820.5:c.7G>A ENSP00000434413.1:p.Ala3Thr
ENST00000527137.2:c.7G>A ENSP00000480060.1:p.Ala3Thr
ENST00000527168.5:n.19G>A
ENST00000527168.6:n.27G>A
ENST00000527876.5:c.7G>A ENSP00000460728.1:p.Ala3Thr
ENST00000529110.2:c.7G>A ENSP00000435349.2:p.Ala3Thr
ENST00000529957.5:n.27G>A
ENST00000534197.5:n.25G>A
ENST00000683366.1:c.7G>A ENSP00000507283.1:p.Ala3Thr
ENST00000683887.1:c.7G>A ENSP00000506886.1:p.Ala3Thr
XM_017023782.1:c.7G>A XP_016879271.1:p.Ala3Thr