Canonical Allele Identifier: CA10632942
Gene: DHH HGNC NCBI

Linked Data

ClinVar Variation Id: 309097
ClinVar RCV Id: RCV000336065 RCV001653517
dbSNP Id: rs75012285
gnomAD v2: 12-49483555-C-A
gnomAD v3: 12-49089772-C-A
gnomAD v4: 12-49089772-C-A
MyVariant Identifiers: chr12:g.49483555C>A (hg19) chr12:g.49089772C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49089772C>A , CM000674.2:g.49089772C>A GRCh38
NC_000012.11:g.49483555C>A , CM000674.1:g.49483555C>A GRCh37
NC_000012.10:g.47769822C>A NCBI36
NG_008973.1:g.10048G>T
NG_008973.2:g.10048G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649637.2:c.*87G>T MANE Select ENSP00000497483.1:n.*87G>T
ENST00000266991.2:c.*87G>T ENSP00000266991.2:n.*87G>T
NM_021044.2:c.*87G>T NP_066382.1:n.*87G>T
NM_021044.4:c.*87G>T MANE Select NP_066382.1:n.*87G>T
XM_017019380.1:c.*87G>T XP_016874869.1:n.*87G>T
XM_017019381.1:c.*87G>T XP_016874870.1:n.*87G>T
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