Canonical Allele Identifier: CA384713948
Gene: DHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49089920G>C , CM000674.2:g.49089920G>C GRCh38
NC_000012.11:g.49483703G>C , CM000674.1:g.49483703G>C GRCh37
NC_000012.10:g.47769970G>C NCBI36
NG_008973.1:g.9900C>G
NG_008973.2:g.9900C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649637.2:c.1130C>G MANE Select ENSP00000497483.1:p.Pro377Arg
ENST00000266991.2:c.1130C>G ENSP00000266991.2:p.Pro377Arg
NM_021044.2:c.1130C>G NP_066382.1:p.Pro377Arg
NM_021044.4:c.1130C>G MANE Select NP_066382.1:p.Pro377Arg
XM_017019380.1:c.989C>G XP_016874869.1:p.Pro330Arg
XM_017019381.1:c.788C>G XP_016874870.1:p.Pro263Arg