Canonical Allele Identifier: CA358224367

Gene: BBS12

Linked Data

• dbSNP Id: rs1300479807
• gnomAD v2: 4-123664134-C-T
• gnomAD v4: 4-122742979-C-T
• MyVariant Identifiers: chr4:g.123664134C>T (hg19) ; chr4:g.122742979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122742979C>T , CM000666.2:g.122742979C>T	GRCh38
NC_000004.11:g.123664134C>T , CM000666.1:g.123664134C>T	GRCh37
NC_000004.10:g.123883584C>T	NCBI36
NG_021203.1:g.15278C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000314218.8:c.1087C>T MANE Select	ENSP00000319062.3:p.Leu363Phe
ENST00000314218.7:c.1087C>T	ENSP00000319062.3:p.Leu363Phe
ENST00000542236.5:c.1087C>T	ENSP00000438273.1:p.Leu363Phe
NM_001178007.1:c.1087C>T	NP_001171478.1:p.Leu363Phe
NM_152618.2:c.1087C>T	NP_689831.2:p.Leu363Phe
XM_011531680.1:c.1087C>T	XP_011529982.1:p.Leu363Phe
XM_011531680.2:c.1087C>T	XP_011529982.1:p.Leu363Phe
XM_017007831.1:c.1087C>T	XP_016863320.1:p.Leu363Phe
NM_152618.3:c.1087C>T MANE Select	NP_689831.2:p.Leu363Phe
NM_001178007.2:c.1087C>T	NP_001171478.1:p.Leu363Phe