Canonical Allele Identifier: CA358224203

Gene: BBS12

Linked Data

• dbSNP Id: rs1338473871
• gnomAD v2: 4-123664059-G-C
• gnomAD v3: 4-122742904-G-C
• gnomAD v4: 4-122742904-G-C
• MyVariant Identifiers: chr4:g.123664059G>C (hg19) ; chr4:g.122742904G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742904G>C , CM000666.2:g.122742904G>C	GRCh38
NC_000004.11:g.123664059G>C , CM000666.1:g.123664059G>C	GRCh37
NC_000004.10:g.123883509G>C	NCBI36
NG_021203.1:g.15203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314218.8:c.1012G>C MANE Select	ENSP00000319062.3:p.Val338Leu
ENST00000314218.7:c.1012G>C	ENSP00000319062.3:p.Val338Leu
ENST00000542236.5:c.1012G>C	ENSP00000438273.1:p.Val338Leu
NM_001178007.1:c.1012G>C	NP_001171478.1:p.Val338Leu
NM_152618.2:c.1012G>C	NP_689831.2:p.Val338Leu
XM_011531680.1:c.1012G>C	XP_011529982.1:p.Val338Leu
XM_011531680.2:c.1012G>C	XP_011529982.1:p.Val338Leu
XM_017007831.1:c.1012G>C	XP_016863320.1:p.Val338Leu
NM_152618.3:c.1012G>C MANE Select	NP_689831.2:p.Val338Leu
NM_001178007.2:c.1012G>C	NP_001171478.1:p.Val338Leu