Canonical Allele Identifier: CA321100163

Gene: CBS

Linked Data

• dbSNP Id: rs529753439
• gnomAD v3: 21-43068385-C-G
• gnomAD v4: 21-43068385-C-G
• MyVariant Identifiers: chr21:g.43068385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43068385C>G , CM000683.2:g.43068385C>G	GRCh38
NG_008938.1:g.12546G>C , LRG_777:g.12546G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398165.8:c.316+124G>C MANE Select	ENSP00000381231.4:n.316+124G>C
ENST00000352178.9:c.316+124G>C	ENSP00000344460.5:n.316+124G>C
ENST00000359624.7:c.316+124G>C	ENSP00000352643.3:n.316+124G>C
ENST00000398158.5:c.316+124G>C	ENSP00000381225.1:n.316+124G>C
ENST00000398165.7:c.316+124G>C	ENSP00000381231.3:n.316+124G>C
ENST00000441030.5:c.316+124G>C	ENSP00000388235.1:n.316+124G>C
ENST00000461686.5:n.20G>C
ENST00000465732.5:n.619G>C
ENST00000470912.5:n.576+124G>C
NM_000071.2:c.316+124G>C , LRG_777t1:c.316+124G>C	NP_000062.1:n.316+124G>C
NM_001178008.1:c.316+124G>C	NP_001171479.1:n.316+124G>C
NM_001178009.1:c.316+124G>C	NP_001171480.1:n.316+124G>C
XM_011529777.1:c.316+124G>C	XP_011528079.1:n.316+124G>C
XM_011529778.1:c.316+124G>C	XP_011528080.1:n.316+124G>C
XM_011529779.1:c.316+124G>C	XP_011528081.1:n.316+124G>C
XM_011529781.1:c.316+124G>C	XP_011528083.1:n.316+124G>C
XM_011529782.1:c.316+124G>C	XP_011528084.1:n.316+124G>C
NM_001178008.2:c.316+124G>C	NP_001171479.1:n.316+124G>C
NM_001178009.2:c.316+124G>C	NP_001171480.1:n.316+124G>C
NM_001320298.1:c.316+124G>C	NP_001307227.1:n.316+124G>C
NM_001321072.1:c.-607G>C	NP_001308001.1:n.-607G>C
XM_011529777.2:c.316+124G>C	XP_011528079.1:n.316+124G>C
XM_017028491.2:c.316+124G>C	XP_016883980.1:n.316+124G>C
XM_024452136.1:c.-329G>C	XP_024307904.1:n.-329G>C
XM_024452137.1:c.-329G>C	XP_024307905.1:n.-329G>C
XM_024452138.1:c.-607G>C	XP_024307906.1:n.-607G>C
XM_024452139.1:c.-607G>C	XP_024307907.1:n.-607G>C
XM_024452140.1:c.-607G>C	XP_024307908.1:n.-607G>C
XR_001754916.2:n.466+124G>C
XR_001754917.2:n.466+124G>C
XR_002958634.1:n.466+124G>C
NM_000071.3:c.316+124G>C MANE Select	NP_000062.1:n.316+124G>C
NM_001178009.3:c.316+124G>C	NP_001171480.1:n.316+124G>C
NM_001178008.3:c.316+124G>C	NP_001171479.1:n.316+124G>C
NM_001320298.2:c.316+124G>C	NP_001307227.1:n.316+124G>C