Canonical Allele Identifier: CA251711
Gene: BBS12 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122742757G>C
GRCh37 chr4:g.123663912G>C
Revel Score:
ENST00000314218 (MANE Select) 0.657
ENST00000542236 0.657
gnomAD v2:
4:123663912 G / C
gnomAD v4:
chr4-122742757-G-C
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742757G>C , CM000666.2:g.122742757G>C GRCh38
NC_000004.11:g.123663912G>C , CM000666.1:g.123663912G>C GRCh37
NC_000004.10:g.123883362G>C NCBI36
NG_021203.1:g.15056G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.865G>C MANE Select ENSP00000319062.3:p.Ala289Pro
ENST00000314218.7:c.865G>C ENSP00000319062.3:p.Ala289Pro
ENST00000542236.5:c.865G>C ENSP00000438273.1:p.Ala289Pro
NM_001178007.1:c.865G>C NP_001171478.1:p.Ala289Pro
NM_152618.2:c.865G>C NP_689831.2:p.Ala289Pro
XM_011531680.1:c.865G>C XP_011529982.1:p.Ala289Pro
XM_011531680.2:c.865G>C XP_011529982.1:p.Ala289Pro
XM_017007831.1:c.865G>C XP_016863320.1:p.Ala289Pro
NM_152618.3:c.865G>C MANE Select NP_689831.2:p.Ala289Pro
NM_001178007.2:c.865G>C NP_001171478.1:p.Ala289Pro
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