Canonical Allele Identifier: CA341338053

Gene: DBT

Linked Data

• dbSNP Id: rs1482696464
• gnomAD v2: 1-100680539-C-A
• gnomAD v3: 1-100214983-C-A
• gnomAD v4: 1-100214983-C-A
• MyVariant Identifiers: chr1:g.100680539C>A (hg19) ; chr1:g.100214983C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214983C>A , CM000663.2:g.100214983C>A	GRCh38
NC_000001.10:g.100680539C>A , CM000663.1:g.100680539C>A	GRCh37
NC_000001.9:g.100453127C>A	NCBI36
NG_011852.2:g.39871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.773G>T	ENSP00000505544.1:p.Gly258Val
ENST00000681780.1:c.230G>T	ENSP00000505780.1:p.Gly77Val
ENST00000370131.3:c.773G>T	ENSP00000359150.3:p.Gly258Val
ENST00000370132.8:c.773G>T MANE Select	ENSP00000359151.3:p.Gly258Val
NM_001918.3:c.773G>T	NP_001909.3:p.Gly258Val
XM_005270545.2:c.230G>T	XP_005270602.1:p.Gly77Val
XM_005270546.2:c.230G>T	XP_005270603.1:p.Gly77Val
XR_946560.1:n.793G>T
XM_005270545.4:c.230G>T	XP_005270602.1:p.Gly77Val
XM_017000468.2:c.230G>T	XP_016855957.1:p.Gly77Val
XM_017000469.2:c.230G>T	XP_016855958.1:p.Gly77Val
XR_946560.3:n.790G>T
NM_001918.4:c.773G>T	NP_001909.3:p.Gly258Val
NM_001918.5:c.773G>T MANE Select	NP_001909.4:p.Gly258Val
NM_001399969.1:c.230G>T	NP_001386898.1:p.Gly77Val
NM_001399972.1:c.230G>T	NP_001386901.1:p.Gly77Val
NR_174363.1:n.605G>T
NR_174364.1:n.787G>T
NR_174365.1:n.570G>T
NR_174366.1:n.787G>T