Canonical Allele Identifier: CA2658216667
Gene: HADHB HGNC NCBI

Linked Data

gnomAD v4: 2-26282961-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26282961T>C , CM000664.2:g.26282961T>C GRCh38
NC_000002.11:g.26505829T>C , CM000664.1:g.26505829T>C GRCh37
NC_000002.10:g.26359333T>C NCBI36
NG_007294.1:g.43009T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317799.10:c.1013+37T>C MANE Select ENSP00000325136.5:n.1013+37T>C
ENST00000317799.9:c.1013+37T>C ENSP00000325136.5:n.1013+37T>C
ENST00000405867.7:c.644+37T>C ENSP00000385411.3:n.644+37T>C
ENST00000494615.1:n.1960+37T>C
ENST00000537713.5:c.968+37T>C ENSP00000444295.1:n.968+37T>C
ENST00000545822.2:c.947+37T>C ENSP00000442665.1:n.947+37T>C
NM_000183.2:c.1013+37T>C NP_000174.1:n.1013+37T>C
NM_001281512.1:c.968+37T>C NP_001268441.1:n.968+37T>C
NM_001281513.1:c.947+37T>C NP_001268442.1:n.947+37T>C
XM_011532803.1:c.1013+37T>C XP_011531105.1:n.1013+37T>C
XM_011532804.1:c.947+37T>C XP_011531106.1:n.947+37T>C
XM_024452830.1:c.983+37T>C XP_024308598.1:n.983+37T>C
XM_024452831.1:c.947+37T>C XP_024308599.1:n.947+37T>C
NM_000183.3:c.1013+37T>C MANE Select NP_000174.1:n.1013+37T>C
NM_001281513.2:c.947+37T>C NP_001268442.1:n.947+37T>C
NM_001281512.2:c.968+37T>C NP_001268441.1:n.968+37T>C