Canonical Allele Identifier: CA1451757
Community Standard Title: NM_014236.4(GNPAT):c.262-41A>G
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231260466A>G , CM000663.2:g.231260466A>G GRCh38
NC_000001.10:g.231396212A>G , CM000663.1:g.231396212A>G GRCh37
NC_000001.9:g.229462835A>G NCBI36
NG_008240.1:g.24294A>G
NG_008240.2:g.24294A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014236.4:c.262-41A>G MANE Select NP_055051.1:n.262-41A>G
ENST00000366647.9:c.262-41A>G MANE Select ENSP00000355607.4:n.262-41A>G
NM_001316350.1:c.79-41A>G NP_001303279.1:n.79-41A>G
NM_001316350.2:c.79-41A>G NP_001303279.1:n.79-41A>G
NM_014236.3:c.262-41A>G NP_055051.1:n.262-41A>G
ENST00000366647.8:c.262-41A>G ENSP00000355607.4:n.262-41A>G
ENST00000416000.1:c.262-41A>G ENSP00000411640.1:n.262-41A>G
ENST00000436239.5:c.79-41A>G ENSP00000402811.1:n.79-41A>G
ENST00000644483.1:c.350-41A>G ENSP00000496537.1:n.350-41A>G
XM_005273313.3:c.259-41A>G XP_005273370.1:n.259-41A>G
XM_005273313.4:c.259-41A>G XP_005273370.1:n.259-41A>G
XM_011544303.1:c.-66-41A>G XP_011542605.1:n.-66-41A>G
XM_011544303.3:c.-66-41A>G XP_011542605.1:n.-66-41A>G
XM_011544304.1:c.-66-41A>G XP_011542606.1:n.-66-41A>G
XM_011544304.2:c.-66-41A>G XP_011542606.1:n.-66-41A>G