Canonical Allele Identifier: CA1004975194

Gene: DBT

Linked Data

• dbSNP Id: rs1663808325
• gnomAD v3: 1-100235369-T-C
• gnomAD v4: 1-100235369-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100235369T>C , CM000663.2:g.100235369T>C	GRCh38
NC_000001.10:g.100700925T>C , CM000663.1:g.100700925T>C	GRCh37
NC_000001.9:g.100473513T>C	NCBI36
NG_011852.2:g.19485A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681617.1:c.251+67A>G	ENSP00000505544.1:n.251+67A>G
ENST00000681780.1:c.-293+67A>G	ENSP00000505780.1:n.-293+67A>G
ENST00000370131.3:c.251+67A>G	ENSP00000359150.3:n.251+67A>G
ENST00000370132.8:c.251+67A>G MANE Select	ENSP00000359151.3:n.251+67A>G
NM_001918.3:c.251+67A>G	NP_001909.3:n.251+67A>G
XM_005270545.2:c.-293+67A>G	XP_005270602.1:n.-293+67A>G
XM_005270546.2:c.-111+67A>G	XP_005270603.1:n.-111+67A>G
XR_946560.1:n.271+67A>G
XM_005270545.4:c.-293+67A>G	XP_005270602.1:n.-293+67A>G
XM_017000468.2:c.-293+67A>G	XP_016855957.1:n.-293+67A>G
XM_017000469.2:c.-111+67A>G	XP_016855958.1:n.-111+67A>G
XR_946560.3:n.268+67A>G
NM_001918.4:c.251+67A>G	NP_001909.3:n.251+67A>G
NM_001918.5:c.251+67A>G MANE Select	NP_001909.4:n.251+67A>G
NM_001399969.1:c.-293+67A>G	NP_001386898.1:n.-293+67A>G
NM_001399972.1:c.-293+67A>G	NP_001386901.1:n.-293+67A>G
NR_174363.1:n.265+67A>G
NR_174364.1:n.265+67A>G
NR_174365.1:n.265+67A>G
NR_174366.1:n.265+67A>G