Canonical Allele Identifier: CA38979348

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231268068C>A , CM000663.2:g.231268068C>A	GRCh38
NC_000001.10:g.231403814C>A , CM000663.1:g.231403814C>A	GRCh37
NC_000001.9:g.229470437C>A	NCBI36
NG_008240.1:g.31896C>A
NG_008240.2:g.31896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.1279+165C>A MANE Select	ENSP00000355607.4:n.1279+165C>A
ENST00000644483.1:c.*965+165C>A	ENSP00000496537.1:n.*965+165C>A
ENST00000366647.8:c.1279+165C>A	ENSP00000355607.4:n.1279+165C>A
ENST00000416000.1:c.1249+165C>A	ENSP00000411640.1:n.1249+165C>A
ENST00000492459.1:n.395+157C>A
NM_001316350.1:c.1096+165C>A	NP_001303279.1:n.1096+165C>A
NM_014236.3:c.1279+165C>A	NP_055051.1:n.1279+165C>A
XM_005273313.3:c.1276+165C>A	XP_005273370.1:n.1276+165C>A
XM_011544303.1:c.952+165C>A	XP_011542605.1:n.952+165C>A
XM_011544304.1:c.952+165C>A	XP_011542606.1:n.952+165C>A
XM_005273313.4:c.1276+165C>A	XP_005273370.1:n.1276+165C>A
XM_011544303.3:c.952+165C>A	XP_011542605.1:n.952+165C>A
XM_011544304.2:c.952+165C>A	XP_011542606.1:n.952+165C>A
NM_014236.4:c.1279+165C>A MANE Select	NP_055051.1:n.1279+165C>A
NM_001316350.2:c.1096+165C>A	NP_001303279.1:n.1096+165C>A