Canonical Allele Identifier: CA358223957
Gene: BBS12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.123663949A>C (hg19) chr4:g.122742794A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742794A>C , CM000666.2:g.122742794A>C GRCh38
NC_000004.11:g.123663949A>C , CM000666.1:g.123663949A>C GRCh37
NC_000004.10:g.123883399A>C NCBI36
NG_021203.1:g.15093A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.902A>C MANE Select ENSP00000319062.3:p.Gln301Pro
ENST00000314218.7:c.902A>C ENSP00000319062.3:p.Gln301Pro
ENST00000542236.5:c.902A>C ENSP00000438273.1:p.Gln301Pro
NM_001178007.1:c.902A>C NP_001171478.1:p.Gln301Pro
NM_152618.2:c.902A>C NP_689831.2:p.Gln301Pro
XM_011531680.1:c.902A>C XP_011529982.1:p.Gln301Pro
XM_011531680.2:c.902A>C XP_011529982.1:p.Gln301Pro
XM_017007831.1:c.902A>C XP_016863320.1:p.Gln301Pro
NM_152618.3:c.902A>C MANE Select NP_689831.2:p.Gln301Pro
NM_001178007.2:c.902A>C NP_001171478.1:p.Gln301Pro
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