Canonical Allele Identifier: CA2581413607

Gene: RELL1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.37649533A>C , CM000666.2:g.37649533A>C	GRCh38
NC_000004.11:g.37651155A>C , CM000666.1:g.37651155A>C	GRCh37
NC_000004.10:g.37327550A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454158.7:c.89-33T>G MANE Select	ENSP00000398778.2:n.89-33T>G
ENST00000314117.8:c.89-33T>G	ENSP00000313385.4:n.89-33T>G
ENST00000454158.6:c.89-33T>G	ENSP00000398778.2:n.89-33T>G
ENST00000512114.1:c.152-33T>G	ENSP00000424031.1:n.152-33T>G
NM_001085399.1:c.89-33T>G	NP_001078868.1:n.89-33T>G
NM_001085400.1:c.89-33T>G	NP_001078869.1:n.89-33T>G
XR_427509.1:n.179-33T>G
XR_925167.1:n.179-33T>G
XR_925168.1:n.179-33T>G
XR_925169.1:n.179-33T>G
XR_925170.1:n.179-33T>G
XM_017008590.2:c.-453-33T>G	XP_016864079.1:n.-453-33T>G
XR_002959758.1:n.205-33T>G
NM_001085400.2:c.89-33T>G MANE Select	NP_001078869.1:n.89-33T>G
NM_001085399.2:c.89-33T>G	NP_001078868.1:n.89-33T>G