Canonical Allele Identifier: CA2658218249
Gene: HADHB HGNC NCBI

Linked Data

gnomAD v4: 2-26285402-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26285402G>T , CM000664.2:g.26285402G>T GRCh38
NC_000002.11:g.26508270G>T , CM000664.1:g.26508270G>T GRCh37
NC_000002.10:g.26361774G>T NCBI36
NG_007294.1:g.45450G>T

Transcript Alleles

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