Canonical Allele Identifier: CA10705251
Community Standard Title: NM_014236.4(GNPAT):c.79-95T>A
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231250866T>A , CM000663.2:g.231250866T>A GRCh38
NC_000001.10:g.231386612T>A , CM000663.1:g.231386612T>A GRCh37
NC_000001.9:g.229453235T>A NCBI36
NG_008240.1:g.14694T>A
NG_008240.2:g.14694T>A

Transcript Alleles

HGVS Amino-acid Change
NM_014236.4:c.79-95T>A MANE Select NP_055051.1:n.79-95T>A
ENST00000366647.9:c.79-95T>A MANE Select ENSP00000355607.4:n.79-95T>A
NM_001316350.1:c.78+9410T>A NP_001303279.1:n.78+9410T>A
NM_001316350.2:c.78+9410T>A NP_001303279.1:n.78+9410T>A
NM_014236.3:c.79-95T>A NP_055051.1:n.79-95T>A
ENST00000366647.8:c.79-95T>A ENSP00000355607.4:n.79-95T>A
ENST00000416000.1:c.79-95T>A ENSP00000411640.1:n.79-95T>A
ENST00000436239.5:c.78+9410T>A ENSP00000402811.1:n.78+9410T>A
ENST00000644483.1:c.79-95T>A ENSP00000496537.1:n.79-95T>A
XM_005273313.3:c.79-98T>A XP_005273370.1:n.79-98T>A
XM_005273313.4:c.79-98T>A XP_005273370.1:n.79-98T>A
XM_011544303.1:c.-337-95T>A XP_011542605.1:n.-337-95T>A
XM_011544303.3:c.-337-95T>A XP_011542605.1:n.-337-95T>A
XM_011544304.1:c.-154-7356T>A XP_011542606.1:n.-154-7356T>A
XM_011544304.2:c.-154-7356T>A XP_011542606.1:n.-154-7356T>A