Canonical Allele Identifier: CA2886526
Gene: RELL1 HGNC NCBI
COSMIC:
COSN15322198 (not active)
MyVariant.info:
GRCh38 chr4:g.37649533A>G
GRCh37 chr4:g.37651155A>G
gnomAD v2:
4:37651155 A / G
gnomAD v3:
4:37649533 A / G
gnomAD v4:
chr4-37649533-A-G
Joint Max Group AF 0.37519997 (NFE)
Genomes Max Group AF 0.36637989 (NFE)
Exomes Max Group AF 0.37554321 (NFE)
dbSNP:
2292298
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Genomic Alleles

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

Transcript Alleles

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