Canonical Allele Identifier: CA5313661
Community Standard Title: NM_000787.4(DBH):c.1722+13G>T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133657242G>T , CM000671.2:g.133657242G>T GRCh38
NC_000009.11:g.136522364G>T , CM000671.1:g.136522364G>T GRCh37
NC_000009.10:g.135512185G>T NCBI36
NG_008645.1:g.25880G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000787.4:c.1722+13G>T (DBH) MANE Select NP_000778.3:n.1722+13G>T
ENST00000393056.8:c.1722+13G>T (DBH) MANE Select ENSP00000376776.2:n.1722+13G>T
NM_000787.3:c.1722+13G>T (DBH) NP_000778.3:n.1722+13G>T
NR_102735.1:n.167C>A (DBH-AS1)
ENST00000393056.6:c.1722+13G>T (DBH) ENSP00000376776.2:n.1722+13G>T