Canonical Allele Identifier: CA358224188
Gene: BBS12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742896T>G , CM000666.2:g.122742896T>G GRCh38
NC_000004.11:g.123664051T>G , CM000666.1:g.123664051T>G GRCh37
NC_000004.10:g.123883501T>G NCBI36
NG_021203.1:g.15195T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.1004T>G MANE Select ENSP00000319062.3:p.Ile335Ser
ENST00000314218.7:c.1004T>G ENSP00000319062.3:p.Ile335Ser
ENST00000542236.5:c.1004T>G ENSP00000438273.1:p.Ile335Ser
NM_001178007.1:c.1004T>G NP_001171478.1:p.Ile335Ser
NM_152618.2:c.1004T>G NP_689831.2:p.Ile335Ser
XM_011531680.1:c.1004T>G XP_011529982.1:p.Ile335Ser
XM_011531680.2:c.1004T>G XP_011529982.1:p.Ile335Ser
XM_017007831.1:c.1004T>G XP_016863320.1:p.Ile335Ser
NM_152618.3:c.1004T>G MANE Select NP_689831.2:p.Ile335Ser
NM_001178007.2:c.1004T>G NP_001171478.1:p.Ile335Ser