Canonical Allele Identifier: CA345239673

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231274063G>T , CM000663.2:g.231274063G>T	GRCh38
NC_000001.10:g.231409809G>T , CM000663.1:g.231409809G>T	GRCh37
NC_000001.9:g.229476432G>T	NCBI36
NG_008240.1:g.37891G>T
NG_008240.2:g.37891G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1743+1G>T MANE Select	NP_055051.1:n.1743+1G>T
ENST00000366647.9:c.1743+1G>T MANE Select	ENSP00000355607.4:n.1743+1G>T
NM_001316350.1:c.1560+1G>T	NP_001303279.1:n.1560+1G>T
NM_001316350.2:c.1560+1G>T	NP_001303279.1:n.1560+1G>T
NM_014236.3:c.1743+1G>T	NP_055051.1:n.1743+1G>T
ENST00000366647.8:c.1743+1G>T	ENSP00000355607.4:n.1743+1G>T
ENST00000416000.1:c.1713+1G>T	ENSP00000411640.1:n.1713+1G>T
ENST00000644483.1:c.*1429+1G>T	ENSP00000496537.1:n.*1429+1G>T
XM_005273313.3:c.1740+1G>T	XP_005273370.1:n.1740+1G>T
XM_005273313.4:c.1740+1G>T	XP_005273370.1:n.1740+1G>T
XM_011544303.1:c.1416+1G>T	XP_011542605.1:n.1416+1G>T
XM_011544303.3:c.1416+1G>T	XP_011542605.1:n.1416+1G>T
XM_011544304.1:c.1416+1G>T	XP_011542606.1:n.1416+1G>T
XM_011544304.2:c.1416+1G>T	XP_011542606.1:n.1416+1G>T