Canonical Allele Identifier: CA358224013
Gene: BBS12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.123663973T>A (hg19) chr4:g.122742818T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742818T>A , CM000666.2:g.122742818T>A GRCh38
NC_000004.11:g.123663973T>A , CM000666.1:g.123663973T>A GRCh37
NC_000004.10:g.123883423T>A NCBI36
NG_021203.1:g.15117T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.926T>A MANE Select ENSP00000319062.3:p.Met309Lys
ENST00000314218.7:c.926T>A ENSP00000319062.3:p.Met309Lys
ENST00000542236.5:c.926T>A ENSP00000438273.1:p.Met309Lys
NM_001178007.1:c.926T>A NP_001171478.1:p.Met309Lys
NM_152618.2:c.926T>A NP_689831.2:p.Met309Lys
XM_011531680.1:c.926T>A XP_011529982.1:p.Met309Lys
XM_011531680.2:c.926T>A XP_011529982.1:p.Met309Lys
XM_017007831.1:c.926T>A XP_016863320.1:p.Met309Lys
NM_152618.3:c.926T>A MANE Select NP_689831.2:p.Met309Lys
NM_001178007.2:c.926T>A NP_001171478.1:p.Met309Lys
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