Canonical Allele Identifier: CA384714032

Gene: DHH

Linked Data

• MyVariant Identifiers: chr12:g.49483710C>A (hg19) ; chr12:g.49089927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49089927C>A , CM000674.2:g.49089927C>A	GRCh38
NC_000012.11:g.49483710C>A , CM000674.1:g.49483710C>A	GRCh37
NC_000012.10:g.47769977C>A	NCBI36
NG_008973.1:g.9893G>T
NG_008973.2:g.9893G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649637.2:c.1123G>T MANE Select	ENSP00000497483.1:p.Val375Phe
ENST00000266991.2:c.1123G>T	ENSP00000266991.2:p.Val375Phe
NM_021044.2:c.1123G>T	NP_066382.1:p.Val375Phe
NM_021044.4:c.1123G>T MANE Select	NP_066382.1:p.Val375Phe
XM_017019380.1:c.982G>T	XP_016874869.1:p.Val328Phe
XM_017019381.1:c.781G>T	XP_016874870.1:p.Val261Phe