Canonical Allele Identifier: CA2548364634
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231277744A>G , CM000663.2:g.231277744A>G GRCh38
NC_000001.10:g.231413490A>G , CM000663.1:g.231413490A>G GRCh37
NC_000001.9:g.229480113A>G NCBI36
NG_008240.1:g.41572A>G
NG_008240.2:g.41572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.*202A>G MANE Select ENSP00000355607.4:n.*202A>G
ENST00000644483.1:c.*1931A>G ENSP00000496537.1:n.*1931A>G
ENST00000366647.8:c.*202A>G ENSP00000355607.4:n.*202A>G
NM_001316350.1:c.*202A>G NP_001303279.1:n.*202A>G
NM_014236.3:c.*202A>G NP_055051.1:n.*202A>G
XM_005273313.3:c.*202A>G XP_005273370.1:n.*202A>G
XM_011544303.1:c.*202A>G XP_011542605.1:n.*202A>G
XM_011544304.1:c.*202A>G XP_011542606.1:n.*202A>G
XM_005273313.4:c.*202A>G XP_005273370.1:n.*202A>G
XM_011544303.3:c.*202A>G XP_011542605.1:n.*202A>G
XM_011544304.2:c.*202A>G XP_011542606.1:n.*202A>G
NM_014236.4:c.*202A>G MANE Select NP_055051.1:n.*202A>G
NM_001316350.2:c.*202A>G NP_001303279.1:n.*202A>G