Canonical Allele Identifier: CA394187069

Gene: GNPTG

Linked Data

• dbSNP Id: rs1162134894
• gnomAD v3: 16-1361952-T-A
• gnomAD v4: 16-1361952-T-A
• MyVariant Identifiers: chr16:g.1411953T>A (hg19) ; chr16:g.1361952T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361952T>A , CM000678.2:g.1361952T>A	GRCh38
NC_000016.9:g.1411953T>A , CM000678.1:g.1411953T>A	GRCh37
NC_000016.8:g.1351954T>A	NCBI36
NG_016985.1:g.15054T>A
NG_033129.1:g.57753A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.413T>A
ENST00000529110.2:c.398T>A	ENSP00000435349.2:p.Leu133His
ENST00000529957.6:n.372T>A
ENST00000683366.1:c.*46T>A	ENSP00000507283.1:n.*46T>A
ENST00000683887.1:c.362T>A	ENSP00000506886.1:p.Leu121His
ENST00000684100.1:n.308T>A
ENST00000684126.1:n.372T>A
ENST00000684688.1:n.939T>A
ENST00000204679.9:c.314T>A MANE Select	ENSP00000204679.4:p.Leu105His
ENST00000204679.8:c.314T>A	ENSP00000204679.4:p.Leu105His
ENST00000526820.5:c.*216T>A	ENSP00000434413.1:n.*216T>A
ENST00000527076.1:n.1330T>A
ENST00000527168.5:n.350T>A
ENST00000529110.1:c.381T>A
ENST00000529957.5:n.413T>A
NM_032520.4:c.314T>A	NP_115909.1:p.Leu105His
XM_017023782.1:c.362T>A	XP_016879271.1:p.Leu121His
XM_017023783.1:c.-47T>A	XP_016879272.1:n.-47T>A
NM_032520.5:c.314T>A MANE Select	NP_115909.1:p.Leu105His