Canonical Allele Identifier: CA2658218245

Gene: HADHB

Linked Data

• gnomAD v4: 2-26285396-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285396G>C , CM000664.2:g.26285396G>C	GRCh38
NC_000002.11:g.26508264G>C , CM000664.1:g.26508264G>C	GRCh37
NC_000002.10:g.26361768G>C	NCBI36
NG_007294.1:g.45444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1225-11G>C MANE Select	ENSP00000325136.5:n.1225-11G>C
ENST00000317799.9:c.1225-11G>C	ENSP00000325136.5:n.1225-11G>C
ENST00000405867.7:c.856-11G>C	ENSP00000385411.3:n.856-11G>C
ENST00000494615.1:n.2172-11G>C
ENST00000537713.5:c.1180-11G>C	ENSP00000444295.1:n.1180-11G>C
ENST00000545822.2:c.1159-11G>C	ENSP00000442665.1:n.1159-11G>C
NM_000183.2:c.1225-11G>C	NP_000174.1:n.1225-11G>C
NM_001281512.1:c.1180-11G>C	NP_001268441.1:n.1180-11G>C
NM_001281513.1:c.1159-11G>C	NP_001268442.1:n.1159-11G>C
XM_011532803.1:c.1225-11G>C	XP_011531105.1:n.1225-11G>C
XM_011532804.1:c.1159-11G>C	XP_011531106.1:n.1159-11G>C
XM_024452830.1:c.1195-11G>C	XP_024308598.1:n.1195-11G>C
XM_024452831.1:c.1159-11G>C	XP_024308599.1:n.1159-11G>C
NM_000183.3:c.1225-11G>C MANE Select	NP_000174.1:n.1225-11G>C
NM_001281513.2:c.1159-11G>C	NP_001268442.1:n.1159-11G>C
NM_001281512.2:c.1180-11G>C	NP_001268441.1:n.1180-11G>C