Canonical Allele Identifier: CA5313114

Gene: DBH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133642273G>A , CM000671.2:g.133642273G>A	GRCh38
NC_000009.11:g.136507395G>A , CM000671.1:g.136507395G>A	GRCh37
NC_000009.10:g.135497216G>A	NCBI36
NG_008645.1:g.10911G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000787.4:c.553G>A MANE Select	NP_000778.3:p.Gly185Ser
ENST00000393056.8:c.553G>A MANE Select	ENSP00000376776.2:p.Gly185Ser
NM_000787.3:c.553G>A	NP_000778.3:p.Gly185Ser
ENST00000263611.2:c.364G>A	ENSP00000263611.2:p.Gly122Ser
ENST00000263611.3:c.400G>A	ENSP00000263611.3:p.Gly134Ser
ENST00000393056.6:c.553G>A	ENSP00000376776.2:p.Gly185Ser