Canonical Allele Identifier: CA375415472
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644273G>C , CM000671.2:g.133644273G>C GRCh38
NC_000009.11:g.136509395G>C , CM000671.1:g.136509395G>C GRCh37
NC_000009.10:g.135499216G>C NCBI36
NG_008645.1:g.12911G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.977G>C MANE Select ENSP00000376776.2:p.Arg326Thr
ENST00000393056.6:c.977G>C ENSP00000376776.2:p.Arg326Thr
NM_000787.3:c.977G>C NP_000778.3:p.Arg326Thr
NM_000787.4:c.977G>C MANE Select NP_000778.3:p.Arg326Thr