Canonical Allele Identifier: CA749579436

Gene: CBS

Linked Data

• dbSNP Id: rs1226637783
• gnomAD v4: 21-43063871-C-A
• MyVariant Identifiers: chr21:g.43063871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43063871C>A , CM000683.2:g.43063871C>A	GRCh38
NG_008938.1:g.17060G>T , LRG_777:g.17060G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000398165.8:c.828+29G>T MANE Select	ENSP00000381231.4:n.828+29G>T
ENST00000352178.9:c.828+29G>T	ENSP00000344460.5:n.828+29G>T
ENST00000359624.7:c.828+29G>T	ENSP00000352643.3:n.828+29G>T
ENST00000398158.5:c.828+29G>T	ENSP00000381225.1:n.828+29G>T
ENST00000398165.7:c.828+29G>T	ENSP00000381231.3:n.828+29G>T
ENST00000461686.5:n.1139+29G>T
ENST00000496485.1:n.328+29G>T
NM_000071.2:c.828+29G>T , LRG_777t1:c.828+29G>T	NP_000062.1:n.828+29G>T
NM_001178008.1:c.828+29G>T	NP_001171479.1:n.828+29G>T
NM_001178009.1:c.828+29G>T	NP_001171480.1:n.828+29G>T
XM_011529773.1:c.879+29G>T	XP_011528075.1:n.879+29G>T
XM_011529774.1:c.879+29G>T	XP_011528076.1:n.879+29G>T
XM_011529775.1:c.879+29G>T	XP_011528077.1:n.879+29G>T
XM_011529776.1:c.879+29G>T	XP_011528078.1:n.879+29G>T
XM_011529777.1:c.828+29G>T	XP_011528079.1:n.828+29G>T
XM_011529778.1:c.828+29G>T	XP_011528080.1:n.828+29G>T
XM_011529779.1:c.828+29G>T	XP_011528081.1:n.828+29G>T
XM_011529781.1:c.828+29G>T	XP_011528083.1:n.828+29G>T
XM_011529782.1:c.828+29G>T	XP_011528084.1:n.828+29G>T
XM_011529783.1:c.513+29G>T	XP_011528085.1:n.513+29G>T
XM_011529784.1:c.513+29G>T	XP_011528086.1:n.513+29G>T
NM_001178008.2:c.828+29G>T	NP_001171479.1:n.828+29G>T
NM_001178009.2:c.828+29G>T	NP_001171480.1:n.828+29G>T
NM_001320298.1:c.828+29G>T	NP_001307227.1:n.828+29G>T
NM_001321072.1:c.513+29G>T	NP_001308001.1:n.513+29G>T
XM_011529774.2:c.879+29G>T	XP_011528076.1:n.879+29G>T
XM_011529777.2:c.828+29G>T	XP_011528079.1:n.828+29G>T
XM_011529783.2:c.513+29G>T	XP_011528085.1:n.513+29G>T
XM_017028491.2:c.828+29G>T	XP_016883980.1:n.828+29G>T
XM_024452136.1:c.879+29G>T	XP_024307904.1:n.879+29G>T
XM_024452137.1:c.879+29G>T	XP_024307905.1:n.879+29G>T
XM_024452138.1:c.513+29G>T	XP_024307906.1:n.513+29G>T
XM_024452139.1:c.513+29G>T	XP_024307907.1:n.513+29G>T
XM_024452140.1:c.513+29G>T	XP_024307908.1:n.513+29G>T
XR_001754915.1:n.1199+29G>T
XR_001754916.2:n.978+29G>T
XR_001754917.2:n.978+29G>T
XR_002958634.1:n.1007G>T
NM_000071.3:c.828+29G>T MANE Select	NP_000062.1:n.828+29G>T
NM_001178009.3:c.828+29G>T	NP_001171480.1:n.828+29G>T
NM_001178008.3:c.828+29G>T	NP_001171479.1:n.828+29G>T
NM_001320298.2:c.828+29G>T	NP_001307227.1:n.828+29G>T