Canonical Allele Identifier: CA7010845
Gene: SCEL HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77556703G>A , CM000675.2:g.77556703G>A GRCh38
NC_000013.10:g.78130838G>A , CM000675.1:g.78130838G>A GRCh37
NC_000013.9:g.77028839G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000349847.4:c.151G>A MANE Select ENSP00000302579.5:p.Glu51Lys
ENST00000349847.3:c.151G>A ENSP00000302579.5:p.Glu51Lys
ENST00000377246.7:c.151G>A ENSP00000366454.3:p.Glu51Lys
ENST00000471491.5:c.151G>A ENSP00000432840.1:p.Glu51Lys
ENST00000535157.5:c.151G>A ENSP00000437895.1:p.Glu51Lys
NM_001160706.1:c.151G>A NP_001154178.1:p.Glu51Lys
NM_003843.3:c.151G>A NP_003834.3:p.Glu51Lys
NM_144777.2:c.151G>A NP_659001.2:p.Glu51Lys
XM_005266578.1:c.151G>A XP_005266635.1:p.Glu51Lys
XM_006719882.1:c.151G>A XP_006719945.1:p.Glu51Lys
XM_006719884.1:c.151G>A XP_006719947.1:p.Glu51Lys
XM_006719885.1:c.151G>A XP_006719948.1:p.Glu51Lys
XM_011535281.1:c.151G>A XP_011533583.1:p.Glu51Lys
XM_011535282.1:c.151G>A XP_011533584.1:p.Glu51Lys
XM_011535283.1:c.151G>A XP_011533585.1:p.Glu51Lys
XM_011535284.1:c.151G>A XP_011533586.1:p.Glu51Lys
XM_011535285.1:c.151G>A XP_011533587.1:p.Glu51Lys
XM_011535286.1:c.151G>A XP_011533588.1:p.Glu51Lys
XM_011535287.1:c.151G>A XP_011533589.1:p.Glu51Lys
XM_011535288.1:c.151G>A XP_011533590.1:p.Glu51Lys
XM_011535289.1:c.151G>A XP_011533591.1:p.Glu51Lys
XM_011535290.1:c.151G>A XP_011533592.1:p.Glu51Lys
XM_011535291.1:c.151G>A XP_011533593.1:p.Glu51Lys
XM_011535285.2:c.151G>A XP_011533587.1:p.Glu51Lys
XM_017020805.1:c.151G>A XP_016876294.1:p.Glu51Lys
NM_144777.3:c.151G>A MANE Select NP_659001.2:p.Glu51Lys
NM_003843.4:c.151G>A NP_003834.3:p.Glu51Lys
NM_001160706.2:c.151G>A NP_001154178.1:p.Glu51Lys