Canonical Allele Identifier: CA124606

Linked Data

ClinVar Variation Id: 15020
ClinVar RCV Id: RCV000016160
dbSNP Id: rs41404150
gnomAD v4: 11-5249573-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249573G>C , CM000673.2:g.5249573G>C GRCh38
NC_000011.9:g.5270803G>C , CM000673.1:g.5270803G>C GRCh37
NC_000011.8:g.5227379G>C NCBI36
NG_000007.3:g.48043C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.110C>G (HBG1) MANE Select ENSP00000327431.4:p.Pro37Arg
ENST00000642908.1:c.316-1086C>G ENSP00000495346.1:n.316-1086C>G
ENST00000647543.1:c.379-1086C>G ENSP00000496470.1:n.379-1086C>G
ENST00000648735.1:n.161C>G (HBG1)
ENST00000330597.3:c.110C>G (HBG1) ENSP00000327431.3:p.Pro37Arg
ENST00000620888.4:c.316-1086C>G (HBG2) ENSP00000479637.1:n.316-1086C>G
ENST00000623781.1:c.245G>C ENSP00000485381.1:p.Trp82Ser
ENST00000632727.1:c.72C>G (HBG1) ENSP00000488759.1:p.Pro24=
NM_000559.2:c.110C>G (HBG1) NP_000550.2:p.Pro37Arg
NM_000559.3:c.110C>G (HBG1) MANE Select NP_000550.2:p.Pro37Arg