Canonical Allele Identifier: CA423903281

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231270755T>G , CM000663.2:g.231270755T>G	GRCh38
NC_000001.10:g.231406501T>G , CM000663.1:g.231406501T>G	GRCh37
NC_000001.9:g.229473124T>G	NCBI36
NG_008240.1:g.34583T>G
NG_008240.2:g.34583T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1280-3T>G MANE Select	NP_055051.1:n.1280-3T>G
ENST00000366647.9:c.1280-3T>G MANE Select	ENSP00000355607.4:n.1280-3T>G
NM_001316350.1:c.1097-3T>G	NP_001303279.1:n.1097-3T>G
NM_001316350.2:c.1097-3T>G	NP_001303279.1:n.1097-3T>G
NM_014236.3:c.1280-3T>G	NP_055051.1:n.1280-3T>G
ENST00000366647.8:c.1280-3T>G	ENSP00000355607.4:n.1280-3T>G
ENST00000416000.1:c.1250-3T>G	ENSP00000411640.1:n.1250-3T>G
ENST00000644483.1:c.*966-3T>G	ENSP00000496537.1:n.*966-3T>G
XM_005273313.3:c.1277-3T>G	XP_005273370.1:n.1277-3T>G
XM_005273313.4:c.1277-3T>G	XP_005273370.1:n.1277-3T>G
XM_011544303.1:c.953-3T>G	XP_011542605.1:n.953-3T>G
XM_011544303.3:c.953-3T>G	XP_011542605.1:n.953-3T>G
XM_011544304.1:c.953-3T>G	XP_011542606.1:n.953-3T>G
XM_011544304.2:c.953-3T>G	XP_011542606.1:n.953-3T>G