Canonical Allele Identifier: CA6549132
Gene: DHH HGNC NCBI

Linked Data

ClinVar Variation Id: 309101
ClinVar RCV Id: RCV000401936
dbSNP Id: rs755199142
ExAC: 12:49484246 G / T
gnomAD v2: 12-49484246-G-T
gnomAD v4: 12-49090463-G-T
MyVariant Identifiers: chr12:g.49484246G>T (hg19) chr12:g.49090463G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49090463G>T , CM000674.2:g.49090463G>T GRCh38
NC_000012.11:g.49484246G>T , CM000674.1:g.49484246G>T GRCh37
NC_000012.10:g.47770513G>T NCBI36
NG_008973.1:g.9357C>A
NG_008973.2:g.9357C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649637.2:c.587C>A MANE Select ENSP00000497483.1:p.Ala196Glu
ENST00000266991.2:c.587C>A ENSP00000266991.2:p.Ala196Glu
NM_021044.2:c.587C>A NP_066382.1:p.Ala196Glu
NM_021044.4:c.587C>A MANE Select NP_066382.1:p.Ala196Glu
XM_017019380.1:c.446C>A XP_016874869.1:p.Ala149Glu
XM_017019381.1:c.245C>A XP_016874870.1:p.Ala82Glu
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