Canonical Allele Identifier: CA5933385

Gene: ELP4

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.31632326A>C , CM000673.2:g.31632326A>C	GRCh38
NC_000011.9:g.31653873A>C , CM000673.1:g.31653873A>C	GRCh37
NC_000011.8:g.31610449A>C	NCBI36
NG_034086.1:g.127598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350638.10:c.851A>C	ENSP00000298937.9:p.Lys284Thr
ENST00000379163.10:c.851A>C	ENSP00000368461.5:p.Lys284Thr
ENST00000638184.1:c.652A>C
ENST00000638347.1:c.848A>C	ENSP00000492567.1:p.Lys283Thr
ENST00000638376.1:c.860A>C
ENST00000638482.1:c.848A>C	ENSP00000491641.1:p.Lys283Thr
ENST00000638917.1:c.*231A>C	ENSP00000491989.1:n.*231A>C
ENST00000638984.1:c.769A>C	ENSP00000492604.1:n.769A>C
ENST00000639097.1:c.222A>C
ENST00000639570.1:c.848A>C	ENSP00000491971.1:p.Lys283Thr
ENST00000639878.1:c.848A>C	ENSP00000491157.1:p.Lys283Thr
ENST00000640081.1:c.*498A>C	ENSP00000491839.1:n.*498A>C
ENST00000640231.1:c.848A>C	ENSP00000492475.1:p.Lys283Thr
ENST00000640342.1:c.851A>C	ENSP00000492628.1:p.Lys284Thr
ENST00000640533.1:c.851A>C	ENSP00000492770.1:p.Lys284Thr
ENST00000640790.1:c.864A>C
ENST00000640921.1:n.746A>C
ENST00000640954.1:c.848A>C	ENSP00000492376.1:p.Lys283Thr
ENST00000640961.2:c.848A>C MANE Select	ENSP00000492152.1:p.Lys283Thr
ENST00000350638.9:c.848A>C	ENSP00000298937.8:p.Lys283Thr
ENST00000379163.9:c.851A>C	ENSP00000368461.5:p.Lys284Thr
ENST00000395934.2:c.848A>C	ENSP00000379267.2:p.Lys283Thr
ENST00000474374.5:c.*294A>C	ENSP00000432642.1:n.*294A>C
NM_001288725.1:c.851A>C	NP_001275654.1:p.Lys284Thr
NM_001288726.1:c.848A>C	NP_001275655.1:p.Lys283Thr
NM_019040.4:c.848A>C	NP_061913.3:p.Lys283Thr
XM_005252865.2:c.851A>C	XP_005252922.1:p.Lys284Thr
XM_011519986.1:c.851A>C	XP_011518288.1:p.Lys284Thr
XM_011519987.1:c.848A>C	XP_011518289.1:p.Lys283Thr
XM_011519988.1:c.851A>C	XP_011518290.1:p.Lys284Thr
XM_011519989.1:c.851A>C	XP_011518291.1:p.Lys284Thr
NM_019040.5:c.848A>C MANE Select	NP_061913.3:p.Lys283Thr
NM_001288725.2:c.851A>C	NP_001275654.1:p.Lys284Thr
NM_001288726.2:c.848A>C	NP_001275655.1:p.Lys283Thr