Canonical Allele Identifier: CA358224184
Gene: BBS12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.123664050A>C (hg19) chr4:g.122742895A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122742895A>C , CM000666.2:g.122742895A>C GRCh38
NC_000004.11:g.123664050A>C , CM000666.1:g.123664050A>C GRCh37
NC_000004.10:g.123883500A>C NCBI36
NG_021203.1:g.15194A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314218.8:c.1003A>C MANE Select ENSP00000319062.3:p.Ile335Leu
ENST00000314218.7:c.1003A>C ENSP00000319062.3:p.Ile335Leu
ENST00000542236.5:c.1003A>C ENSP00000438273.1:p.Ile335Leu
NM_001178007.1:c.1003A>C NP_001171478.1:p.Ile335Leu
NM_152618.2:c.1003A>C NP_689831.2:p.Ile335Leu
XM_011531680.1:c.1003A>C XP_011529982.1:p.Ile335Leu
XM_011531680.2:c.1003A>C XP_011529982.1:p.Ile335Leu
XM_017007831.1:c.1003A>C XP_016863320.1:p.Ile335Leu
NM_152618.3:c.1003A>C MANE Select NP_689831.2:p.Ile335Leu
NM_001178007.2:c.1003A>C NP_001171478.1:p.Ile335Leu
Search 100 bp 5'
Search 100 bp 3'