Canonical Allele Identifier: CA375420766

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133656532G>C , CM000671.2:g.133656532G>C GRCh38
NC_000009.11:g.136521654G>C , CM000671.1:g.136521654G>C GRCh37
NC_000009.10:g.135511475G>C NCBI36
NG_008645.1:g.25170G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1444G>C (DBH) MANE Select ENSP00000376776.2:p.Gly482Arg
ENST00000393056.6:c.1444G>C (DBH) ENSP00000376776.2:p.Gly482Arg
NM_000787.3:c.1444G>C (DBH) NP_000778.3:p.Gly482Arg
NR_102735.1:n.288C>G (DBH-AS1)
NM_000787.4:c.1444G>C (DBH) MANE Select NP_000778.3:p.Gly482Arg