Canonical Allele Identifier: CA384713996

Gene: DHH

Linked Data

• MyVariant Identifiers: chr12:g.49483706T>G (hg19) ; chr12:g.49089923T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49089923T>G , CM000674.2:g.49089923T>G	GRCh38
NC_000012.11:g.49483706T>G , CM000674.1:g.49483706T>G	GRCh37
NC_000012.10:g.47769973T>G	NCBI36
NG_008973.1:g.9897A>C
NG_008973.2:g.9897A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649637.2:c.1127A>C MANE Select	ENSP00000497483.1:p.Gln376Pro
ENST00000266991.2:c.1127A>C	ENSP00000266991.2:p.Gln376Pro
NM_021044.2:c.1127A>C	NP_066382.1:p.Gln376Pro
NM_021044.4:c.1127A>C MANE Select	NP_066382.1:p.Gln376Pro
XM_017019380.1:c.986A>C	XP_016874869.1:p.Gln329Pro
XM_017019381.1:c.785A>C	XP_016874870.1:p.Gln262Pro