Canonical Allele Identifier: CA10637670
Gene: DHH HGNC NCBI

Linked Data

ClinVar Variation Id: 309094
ClinVar RCV Id: RCV000341807 RCV001565063
dbSNP Id: rs145466782
gnomAD v2: 12-49483423-C-T
gnomAD v3: 12-49089640-C-T
gnomAD v4: 12-49089640-C-T
MyVariant Identifiers: chr12:g.49483423C>T (hg19) chr12:g.49089640C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49089640C>T , CM000674.2:g.49089640C>T GRCh38
NC_000012.11:g.49483423C>T , CM000674.1:g.49483423C>T GRCh37
NC_000012.10:g.47769690C>T NCBI36
NG_008973.1:g.10180G>A
NG_008973.2:g.10180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649637.2:c.*219G>A MANE Select ENSP00000497483.1:n.*219G>A
ENST00000266991.2:c.*219G>A ENSP00000266991.2:n.*219G>A
NM_021044.2:c.*219G>A NP_066382.1:n.*219G>A
NM_021044.4:c.*219G>A MANE Select NP_066382.1:n.*219G>A
XM_017019380.1:c.*219G>A XP_016874869.1:n.*219G>A
XM_017019381.1:c.*219G>A XP_016874870.1:n.*219G>A
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