Canonical Allele Identifier: CA2838345536

Gene: HADHB

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285613T>C , CM000664.2:g.26285613T>C	GRCh38
NC_000002.11:g.26508481T>C , CM000664.1:g.26508481T>C	GRCh37
NC_000002.10:g.26361985T>C	NCBI36
NG_007294.1:g.45661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1389+42T>C MANE Select	ENSP00000325136.5:n.1389+42T>C
ENST00000317799.9:c.1389+42T>C	ENSP00000325136.5:n.1389+42T>C
ENST00000405867.7:c.1020+42T>C	ENSP00000385411.3:n.1020+42T>C
ENST00000494615.1:n.2336+42T>C
ENST00000537713.5:c.1344+42T>C	ENSP00000444295.1:n.1344+42T>C
ENST00000545822.2:c.1323+42T>C	ENSP00000442665.1:n.1323+42T>C
NM_000183.2:c.1389+42T>C	NP_000174.1:n.1389+42T>C
NM_001281512.1:c.1344+42T>C	NP_001268441.1:n.1344+42T>C
NM_001281513.1:c.1323+42T>C	NP_001268442.1:n.1323+42T>C
XM_011532803.1:c.1389+42T>C	XP_011531105.1:n.1389+42T>C
XM_011532804.1:c.1323+42T>C	XP_011531106.1:n.1323+42T>C
XM_024452830.1:c.1359+42T>C	XP_024308598.1:n.1359+42T>C
XM_024452831.1:c.1323+42T>C	XP_024308599.1:n.1323+42T>C
NM_000183.3:c.1389+42T>C MANE Select	NP_000174.1:n.1389+42T>C
NM_001281513.2:c.1323+42T>C	NP_001268442.1:n.1323+42T>C
NM_001281512.2:c.1344+42T>C	NP_001268441.1:n.1344+42T>C