Canonical Allele Identifier: CA10182930
Community Standard Title: NM_174977.4(SEC14L4):c.188G>A (p.Arg63Gln)
Gene: SEC14L4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30495629C>T , CM000684.2:g.30495629C>T GRCh38
NC_000022.10:g.30891616C>T , CM000684.1:g.30891616C>T GRCh37
NC_000022.9:g.29221616C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_174977.4:c.188G>A MANE Select NP_777637.1:p.Arg63Gln
ENST00000255858.12:c.188G>A MANE Select ENSP00000255858.7:p.Arg63Gln
NM_001161368.1:c.188G>A NP_001154840.1:p.Arg63Gln
NM_001161368.2:c.188G>A NP_001154840.1:p.Arg63Gln
NM_001161368.3:c.188G>A NP_001154840.1:p.Arg63Gln
NM_174977.3:c.188G>A NP_777637.1:p.Arg63Gln
ENST00000255858.11:c.188G>A ENSP00000255858.7:p.Arg63Gln
ENST00000320982.3:c.*87G>A ENSP00000314163.3:n.*87G>A
ENST00000321205.9:c.237G>A ENSP00000317617.5:p.Pro79=
ENST00000381982.3:c.188G>A ENSP00000371412.3:p.Arg63Gln
XM_005261583.2:c.188G>A XP_005261640.1:p.Arg63Gln
XM_006724235.1:c.26G>A XP_006724298.1:p.Arg9Gln
XM_006724235.2:c.26G>A XP_006724298.1:p.Arg9Gln
XM_011530163.1:c.365G>A XP_011528465.1:p.Arg122Gln
XM_011530164.1:c.143G>A XP_011528466.1:p.Arg48Gln
XM_011530164.2:c.143G>A XP_011528466.1:p.Arg48Gln
XM_017028787.1:c.365G>A XP_016884276.1:p.Arg122Gln
XM_017028788.1:c.365G>A XP_016884277.1:p.Arg122Gln
XM_017028789.1:c.26G>A XP_016884278.1:p.Arg9Gln
XM_017028790.1:c.365G>A XP_016884279.1:p.Arg122Gln
XM_017028791.1:c.26G>A XP_016884280.1:p.Arg9Gln