Canonical Allele Identifier: CA5313631
Community Standard Title: NM_000787.4(DBH):c.1643A>G (p.Asn548Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657150A>G , CM000671.2:g.133657150A>G GRCh38
NC_000009.11:g.136522272A>G , CM000671.1:g.136522272A>G GRCh37
NC_000009.10:g.135512093A>G NCBI36
NG_008645.1:g.25788A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000787.4:c.1643A>G (DBH) MANE Select NP_000778.3:p.Asn548Ser
ENST00000393056.8:c.1643A>G (DBH) MANE Select ENSP00000376776.2:p.Asn548Ser
NM_000787.3:c.1643A>G (DBH) NP_000778.3:p.Asn548Ser
NR_102735.1:n.259T>C (DBH-AS1)
ENST00000393056.6:c.1643A>G (DBH) ENSP00000376776.2:p.Asn548Ser