Canonical Allele Identifier: CA358224372

Gene: BBS12

Linked Data

• gnomAD v4: 4-122742982-A-C
• MyVariant Identifiers: chr4:g.123664137A>C (hg19) ; chr4:g.122742982A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742982A>C , CM000666.2:g.122742982A>C	GRCh38
NC_000004.11:g.123664137A>C , CM000666.1:g.123664137A>C	GRCh37
NC_000004.10:g.123883587A>C	NCBI36
NG_021203.1:g.15281A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1090A>C MANE Select	ENSP00000319062.3:p.Thr364Pro
ENST00000314218.7:c.1090A>C	ENSP00000319062.3:p.Thr364Pro
ENST00000542236.5:c.1090A>C	ENSP00000438273.1:p.Thr364Pro
NM_001178007.1:c.1090A>C	NP_001171478.1:p.Thr364Pro
NM_152618.2:c.1090A>C	NP_689831.2:p.Thr364Pro
XM_011531680.1:c.1090A>C	XP_011529982.1:p.Thr364Pro
XM_011531680.2:c.1090A>C	XP_011529982.1:p.Thr364Pro
XM_017007831.1:c.1090A>C	XP_016863320.1:p.Thr364Pro
NM_152618.3:c.1090A>C MANE Select	NP_689831.2:p.Thr364Pro
NM_001178007.2:c.1090A>C	NP_001171478.1:p.Thr364Pro