Canonical Allele Identifier: CA1451368859
Gene: RELL1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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