Canonical Allele Identifier: CA358224152

Gene: BBS12

Linked Data

• MyVariant Identifiers: chr4:g.123664035G>C (hg19) ; chr4:g.122742880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742880G>C , CM000666.2:g.122742880G>C	GRCh38
NC_000004.11:g.123664035G>C , CM000666.1:g.123664035G>C	GRCh37
NC_000004.10:g.123883485G>C	NCBI36
NG_021203.1:g.15179G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.988G>C MANE Select	ENSP00000319062.3:p.Val330Leu
ENST00000314218.7:c.988G>C	ENSP00000319062.3:p.Val330Leu
ENST00000542236.5:c.988G>C	ENSP00000438273.1:p.Val330Leu
NM_001178007.1:c.988G>C	NP_001171478.1:p.Val330Leu
NM_152618.2:c.988G>C	NP_689831.2:p.Val330Leu
XM_011531680.1:c.988G>C	XP_011529982.1:p.Val330Leu
XM_011531680.2:c.988G>C	XP_011529982.1:p.Val330Leu
XM_017007831.1:c.988G>C	XP_016863320.1:p.Val330Leu
NM_152618.3:c.988G>C MANE Select	NP_689831.2:p.Val330Leu
NM_001178007.2:c.988G>C	NP_001171478.1:p.Val330Leu