Canonical Allele Identifier: CA364824162
Community Standard Title: NM_019842.4(KCNQ5):c.107T>A (p.Met36Lys)
Gene: KCNQ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.72622296T>A , CM000668.2:g.72622296T>A GRCh38
NC_000006.11:g.73332024T>A , CM000668.1:g.73332024T>A GRCh37
NC_000006.10:g.73388745T>A NCBI36
NG_047170.1:g.6017T>A

Transcript Alleles

HGVS Amino-acid Change
NM_019842.4:c.107T>A MANE Select NP_062816.2:p.Met36Lys
ENST00000370398.6:c.107T>A MANE Select ENSP00000359425.1:p.Met36Lys
NM_001160130.1:c.107T>A NP_001153602.1:p.Met36Lys
NM_001160130.2:c.107T>A NP_001153602.1:p.Met36Lys
NM_001160132.1:c.107T>A NP_001153604.1:p.Met36Lys
NM_001160132.2:c.107T>A NP_001153604.1:p.Met36Lys
NM_001160133.1:c.107T>A NP_001153605.1:p.Met36Lys
NM_001160133.2:c.107T>A NP_001153605.1:p.Met36Lys
NM_001160134.1:c.107T>A NP_001153606.1:p.Met36Lys
NM_001160134.2:c.107T>A NP_001153606.1:p.Met36Lys
NM_019842.3:c.107T>A NP_062816.2:p.Met36Lys
ENST00000342056.6:c.107T>A ENSP00000345055.2:p.Met36Lys
ENST00000355194.8:c.107T>A ENSP00000347326.4:p.Met36Lys
ENST00000355194.9:c.107T>A ENSP00000347326.5:p.Met36Lys
ENST00000355635.7:c.107T>A ENSP00000347853.4:p.Met36Lys
ENST00000370392.5:c.107T>A ENSP00000359419.1:p.Met36Lys
ENST00000370398.5:c.107T>A ENSP00000359425.1:p.Met36Lys
ENST00000402622.6:c.107T>A ENSP00000385501.3:p.Met36Lys
ENST00000403813.6:c.107T>A ENSP00000384453.3:p.Met36Lys
ENST00000414165.6:c.107T>A ENSP00000409861.3:p.Met36Lys
ENST00000445310.2:n.125T>A
ENST00000628967.2:c.107T>A ENSP00000486187.1:p.Met36Lys
ENST00000629977.2:c.107T>A ENSP00000485743.1:p.Met36Lys
ENST00000692515.1:n.453T>A
XM_011535944.1:c.107T>A XP_011534246.1:p.Met36Lys
XM_017011058.1:c.107T>A XP_016866547.1:p.Met36Lys
XM_024446492.1:c.107T>A XP_024302260.1:p.Met36Lys
XM_024446493.1:c.107T>A XP_024302261.1:p.Met36Lys