Canonical Allele Identifier: CA10641526
Gene: DHH HGNC NCBI

Linked Data

ClinVar Variation Id: 309099
ClinVar RCV Id: RCV000301984 RCV001508336
dbSNP Id: rs886049490
gnomAD v2: 12-49483907-C-A
gnomAD v3: 12-49090124-C-A
gnomAD v4: 12-49090124-C-A
MyVariant Identifiers: chr12:g.49483907C>A (hg19) chr12:g.49090124C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49090124C>A , CM000674.2:g.49090124C>A GRCh38
NC_000012.11:g.49483907C>A , CM000674.1:g.49483907C>A GRCh37
NC_000012.10:g.47770174C>A NCBI36
NG_008973.1:g.9696G>T
NG_008973.2:g.9696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649637.2:c.926G>T MANE Select ENSP00000497483.1:p.Arg309Leu
ENST00000266991.2:c.926G>T ENSP00000266991.2:p.Arg309Leu
NM_021044.2:c.926G>T NP_066382.1:p.Arg309Leu
NM_021044.4:c.926G>T MANE Select NP_066382.1:p.Arg309Leu
XM_017019380.1:c.785G>T XP_016874869.1:p.Arg262Leu
XM_017019381.1:c.584G>T XP_016874870.1:p.Arg195Leu
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