Canonical Allele Identifier: CA15330881

Gene: RELL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.37643767C>T , CM000666.2:g.37643767C>T	GRCh38
NC_000004.11:g.37645389C>T , CM000666.1:g.37645389C>T	GRCh37
NC_000004.10:g.37321784C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454158.7:c.385+3601G>A MANE Select	ENSP00000398778.2:n.385+3601G>A
ENST00000314117.8:c.385+3601G>A	ENSP00000313385.4:n.385+3601G>A
ENST00000454158.6:c.385+3601G>A	ENSP00000398778.2:n.385+3601G>A
ENST00000512114.1:c.448+3601G>A	ENSP00000424031.1:n.448+3601G>A
NM_001085399.1:c.385+3601G>A	NP_001078868.1:n.385+3601G>A
NM_001085400.1:c.385+3601G>A	NP_001078869.1:n.385+3601G>A
XR_427509.1:n.475+3601G>A
XR_925167.1:n.475+3601G>A
XR_925168.1:n.475+3601G>A
XR_925169.1:n.475+3601G>A
XR_925170.1:n.475+3601G>A
XM_017008590.2:c.4+3441G>A	XP_016864079.1:n.4+3441G>A
XR_002959758.1:n.661+3441G>A
NM_001085400.2:c.385+3601G>A MANE Select	NP_001078869.1:n.385+3601G>A
NM_001085399.2:c.385+3601G>A	NP_001078868.1:n.385+3601G>A