Canonical Allele Identifier: CA1955396672
Community Standard Title: NM_012139.4(SERGEF):c.448-1310G>T
Gene: SERGEF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18001867C>A , CM000673.2:g.18001867C>A GRCh38
NC_000011.9:g.18023414C>A , CM000673.1:g.18023414C>A GRCh37
NC_000011.8:g.17979990C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_012139.4:c.448-1310G>T MANE Select NP_036271.1:n.448-1310G>T
ENST00000265965.10:c.448-1310G>T MANE Select ENSP00000265965.5:n.448-1310G>T
NM_012139.3:c.448-1310G>T NP_036271.1:n.448-1310G>T
NR_104040.1:n.600-1310G>T
NR_104040.2:n.485-1310G>T
NR_104041.1:n.600-1310G>T
NR_104041.2:n.485-1310G>T
ENST00000265965.9:c.448-1310G>T ENSP00000265965.5:n.448-1310G>T
ENST00000524716.5:c.*390-1310G>T ENSP00000433884.1:n.*390-1310G>T
ENST00000525422.5:c.448-1310G>T ENSP00000434330.1:n.448-1310G>T
ENST00000525920.5:c.58-1310G>T ENSP00000436648.1:n.58-1310G>T
ENST00000527494.5:c.106-1310G>T ENSP00000431490.1:n.106-1310G>T
ENST00000528200.5:c.448-1310G>T ENSP00000434188.1:n.448-1310G>T
ENST00000529728.5:c.106-1310G>T ENSP00000437297.1:n.106-1310G>T
ENST00000530613.5:c.106-1310G>T ENSP00000436080.1:n.106-1310G>T
ENST00000530925.5:c.*2+79G>T ENSP00000433870.1:n.*2+79G>T
ENST00000532212.5:n.535-1310G>T
ENST00000532265.5:c.106-1310G>T ENSP00000431314.1:n.106-1310G>T
ENST00000532389.5:c.106-1310G>T ENSP00000435898.1:n.106-1310G>T
ENST00000533328.5:c.361-1310G>T ENSP00000433383.1:n.361-1310G>T