Canonical Allele Identifier: CA1490417878

Gene: BBS12

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122743008T= , CM000666.2:g.122743008T=	GRCh38
NC_000004.11:g.123664163T= , CM000666.1:g.123664163T=	GRCh37
NC_000004.10:g.123883613T=	NCBI36
NG_021203.1:g.15307T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1116T= MANE Select	ENSP00000319062.3:p.Phe372=
ENST00000314218.7:c.1116T=	ENSP00000319062.3:p.Phe372=
ENST00000542236.5:c.1116T=	ENSP00000438273.1:p.Phe372=
NM_001178007.1:c.1116T=	NP_001171478.1:p.Phe372=
NM_152618.2:c.1116T=	NP_689831.2:p.Phe372=
XM_011531680.1:c.1116T=	XP_011529982.1:p.Phe372=
XM_011531680.2:c.1116T=	XP_011529982.1:p.Phe372=
XM_017007831.1:c.1116T=	XP_016863320.1:p.Phe372=
NM_152618.3:c.1116T= MANE Select	NP_689831.2:p.Phe372=
NM_001178007.2:c.1116T=	NP_001171478.1:p.Phe372=