Canonical Allele Identifier: CA524717679

Gene: DBT

Linked Data

• dbSNP Id: rs1422837983
• gnomAD v2: 1-100680066-T-G
• gnomAD v3: 1-100214510-T-G
• gnomAD v4: 1-100214510-T-G
• MyVariant Identifiers: chr1:g.100680066T>G (hg19) ; chr1:g.100214510T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100214510T>G , CM000663.2:g.100214510T>G	GRCh38
NC_000001.10:g.100680066T>G , CM000663.1:g.100680066T>G	GRCh37
NC_000001.9:g.100452654T>G	NCBI36
NG_011852.2:g.40344A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681617.1:c.939+307A>C	ENSP00000505544.1:n.939+307A>C
ENST00000681780.1:c.396+307A>C	ENSP00000505780.1:n.396+307A>C
ENST00000370131.3:c.939+307A>C	ENSP00000359150.3:n.939+307A>C
ENST00000370132.8:c.939+307A>C MANE Select	ENSP00000359151.3:n.939+307A>C
NM_001918.3:c.939+307A>C	NP_001909.3:n.939+307A>C
XM_005270545.2:c.396+307A>C	XP_005270602.1:n.396+307A>C
XM_005270546.2:c.396+307A>C	XP_005270603.1:n.396+307A>C
XR_946560.1:n.959+307A>C
XM_005270545.4:c.396+307A>C	XP_005270602.1:n.396+307A>C
XM_017000468.2:c.396+307A>C	XP_016855957.1:n.396+307A>C
XM_017000469.2:c.396+307A>C	XP_016855958.1:n.396+307A>C
XR_946560.3:n.956+307A>C
NM_001918.4:c.939+307A>C	NP_001909.3:n.939+307A>C
NM_001918.5:c.939+307A>C MANE Select	NP_001909.4:n.939+307A>C
NM_001399969.1:c.396+307A>C	NP_001386898.1:n.396+307A>C
NM_001399972.1:c.396+307A>C	NP_001386901.1:n.396+307A>C
NR_174363.1:n.771+307A>C
NR_174364.1:n.953+307A>C
NR_174365.1:n.736+307A>C
NR_174366.1:n.953+307A>C