Canonical Allele Identifier: CA375415444
Gene: DBH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644267C>T , CM000671.2:g.133644267C>T GRCh38
NC_000009.11:g.136509389C>T , CM000671.1:g.136509389C>T GRCh37
NC_000009.10:g.135499210C>T NCBI36
NG_008645.1:g.12905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.971C>T MANE Select ENSP00000376776.2:p.Ser324Phe
ENST00000393056.6:c.971C>T ENSP00000376776.2:p.Ser324Phe
NM_000787.3:c.971C>T NP_000778.3:p.Ser324Phe
NM_000787.4:c.971C>T MANE Select NP_000778.3:p.Ser324Phe