Canonical Allele Identifier: CA1245625058
Gene: CYP1B1 HGNC NCBI
RMDN2 HGNC NCBI

Linked Data

dbSNP Id: rs1433189786
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38068793T>C , CM000664.2:g.38068793T>C GRCh38
NC_000002.11:g.38295936T>C , CM000664.1:g.38295936T>C GRCh37
NC_000002.10:g.38149440T>C NCBI36
NG_008386.2:g.12309A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000490576.2:c.*1929A>G (CYP1B1) ENSP00000478839.2:n.*1929A>G
ENST00000610745.5:c.*1929A>G (CYP1B1) MANE Select ENSP00000478561.1:n.*1929A>G
ENST00000491456.1:n.184+385A>G (CYP1B1)
ENST00000610745.4:c.*1929A>G (CYP1B1) ENSP00000478561.1:n.*1929A>G
NM_000104.3:c.*1929A>G (CYP1B1) NP_000095.2:n.*1929A>G
XR_939668.1:n.3793T>C (RMDN2)
XM_011532615.3:c.*1839T>C (RMDN2) XP_011530917.2:n.*1839T>C
XM_017003475.2:c.*1803T>C (RMDN2) XP_016858964.1:n.*1803T>C
XR_939668.3:n.3924T>C (RMDN2)
NM_000104.4:c.*1929A>G (CYP1B1) MANE Select NP_000095.2:n.*1929A>G
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