Canonical Allele Identifier: CA969605

Gene: DBT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100210747A>G , CM000663.2:g.100210747A>G	GRCh38
NC_000001.10:g.100676303A>G , CM000663.1:g.100676303A>G	GRCh37
NC_000001.9:g.100448891A>G	NCBI36
NG_011852.2:g.44107T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001918.5:c.964T>C MANE Select	NP_001909.4:p.Phe322Leu
ENST00000370132.8:c.964T>C MANE Select	ENSP00000359151.3:p.Phe322Leu
NM_001399969.1:c.421T>C	NP_001386898.1:p.Phe141Leu
NM_001399972.1:c.421T>C	NP_001386901.1:p.Phe141Leu
NM_001918.3:c.964T>C	NP_001909.3:p.Phe322Leu
NM_001918.4:c.964T>C	NP_001909.3:p.Phe322Leu
NR_174363.1:n.796T>C
NR_174364.1:n.978T>C
NR_174365.1:n.761T>C
NR_174366.1:n.1063T>C
ENST00000370131.3:c.1317T>C	ENSP00000359150.3:n.1317T>C
ENST00000681617.1:c.1090T>C	ENSP00000505544.1:p.Phe364Leu
ENST00000681780.1:c.421T>C	ENSP00000505780.1:p.Phe141Leu
XM_005270545.2:c.421T>C	XP_005270602.1:p.Phe141Leu
XM_005270545.4:c.421T>C	XP_005270602.1:p.Phe141Leu
XM_005270546.2:c.421T>C	XP_005270603.1:p.Phe141Leu
XM_017000468.2:c.421T>C	XP_016855957.1:p.Phe141Leu
XM_017000469.2:c.421T>C	XP_016855958.1:p.Phe141Leu
XR_946560.1:n.1069T>C
XR_946560.3:n.1066T>C