Canonical Allele Identifier: CA16375938
Gene: DBH HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133644512T>C
GRCh37 chr9:g.136509634T>C
gnomAD v2:
9:136509634 T / C
gnomAD v3:
9:133644512 T / C
gnomAD v4:
chr9-133644512-T-C
Joint Max Group AF 0.46511939 (NFE)
Genomes Max Group AF 0.46511939 (NFE)
ClinVar RCV:
RCV001643465
ClinVar Variation:
1240982
dbSNP:
2519152
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133644512T>C , CM000671.2:g.133644512T>C GRCh38
NC_000009.11:g.136509634T>C , CM000671.1:g.136509634T>C GRCh37
NC_000009.10:g.135499455T>C NCBI36
NG_008645.1:g.13150T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393056.8:c.1024+192T>C MANE Select ENSP00000376776.2:n.1024+192T>C
ENST00000393056.6:c.1024+192T>C ENSP00000376776.2:n.1024+192T>C
NM_000787.3:c.1024+192T>C NP_000778.3:n.1024+192T>C
NM_000787.4:c.1024+192T>C MANE Select NP_000778.3:n.1024+192T>C
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