Canonical Allele Identifier: CA10632942

Gene: DHH

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)

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