Canonical Allele Identifier: CA370840683

Gene: ELP3

Linked Data

• MyVariant Identifiers: chr8:g.28017760G>T (hg19) ; chr8:g.28160243G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28160243G>T , CM000670.2:g.28160243G>T	GRCh38
NC_000008.10:g.28017760G>T , CM000670.1:g.28017760G>T	GRCh37
NC_000008.9:g.28073679G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256398.13:c.1272G>T MANE Select	ENSP00000256398.8:p.Arg424Ser
ENST00000256398.12:c.1272G>T	ENSP00000256398.8:p.Arg424Ser
ENST00000380353.8:c.996G>T	ENSP00000369711.4:p.Arg332Ser
ENST00000517975.1:c.51G>T	ENSP00000430942.1:p.Arg17Ser
ENST00000518112.5:c.*995G>T	ENSP00000429465.1:n.*995G>T
ENST00000519261.5:c.*866G>T	ENSP00000428357.1:n.*866G>T
ENST00000521015.5:c.1230G>T	ENSP00000428449.1:p.Arg410Ser
ENST00000523357.5:c.69G>T	ENSP00000427833.1:p.Arg23Ser
ENST00000523687.5:c.*931G>T	ENSP00000430253.1:n.*931G>T
ENST00000524103.5:c.1056G>T	ENSP00000429180.1:p.Arg352Ser
ENST00000537665.2:c.915G>T	ENSP00000445558.1:p.Arg305Ser
NM_001284220.1:c.1056G>T	NP_001271149.1:p.Arg352Ser
NM_001284222.1:c.1230G>T	NP_001271151.1:p.Arg410Ser
NM_001284224.1:c.915G>T	NP_001271153.1:p.Arg305Ser
NM_001284225.1:c.915G>T	NP_001271154.1:p.Arg305Ser
NM_001284226.1:c.996G>T	NP_001271155.1:p.Arg332Ser
NM_018091.5:c.1272G>T	NP_060561.3:p.Arg424Ser
XM_006716354.1:c.915G>T	XP_006716417.1:p.Arg305Ser
XM_006716354.3:c.915G>T	XP_006716417.1:p.Arg305Ser
XM_017013604.2:c.1272G>T	XP_016869093.1:p.Arg424Ser
XM_024447184.1:c.1230G>T	XP_024302952.1:p.Arg410Ser
XM_024447185.1:c.1056G>T	XP_024302953.1:p.Arg352Ser
NM_018091.6:c.1272G>T MANE Select	NP_060561.3:p.Arg424Ser
NM_001284220.2:c.1056G>T	NP_001271149.1:p.Arg352Ser
NM_001284222.2:c.1230G>T	NP_001271151.1:p.Arg410Ser
NM_001284224.2:c.915G>T	NP_001271153.1:p.Arg305Ser
NM_001284225.2:c.915G>T	NP_001271154.1:p.Arg305Ser
NM_001284226.2:c.996G>T	NP_001271155.1:p.Arg332Ser