Canonical Allele Identifier: CA2191664640
Gene: BTBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1568657
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.83057427A>T , CM000677.2:g.83057427A>T GRCh38
NC_000015.9:g.83726179A>T , CM000677.1:g.83726179A>T GRCh37
NC_000015.8:g.81517183A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000261721.9:c.402-882T>A MANE Select ENSP00000261721.4:n.402-882T>A
ENST00000261721.8:c.402-882T>A ENSP00000261721.4:n.402-882T>A
ENST00000379403.2:c.402-882T>A ENSP00000368713.2:n.402-882T>A
NM_001011885.1:c.402-882T>A NP_001011885.1:n.402-882T>A
NM_025238.3:c.402-882T>A NP_079514.1:n.402-882T>A
XR_931846.1:n.685-882T>A
XR_002957648.1:n.509-882T>A
XR_931846.3:n.509-882T>A
NM_001011885.2:c.402-882T>A NP_001011885.1:n.402-882T>A
NM_025238.4:c.402-882T>A MANE Select NP_079514.1:n.402-882T>A
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