Canonical Allele Identifier: CA10641526

Gene: DHH

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)

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