Canonical Allele Identifier: CA384713971
Gene: DHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.49483704G>C (hg19) chr12:g.49089921G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49089921G>C , CM000674.2:g.49089921G>C GRCh38
NC_000012.11:g.49483704G>C , CM000674.1:g.49483704G>C GRCh37
NC_000012.10:g.47769971G>C NCBI36
NG_008973.1:g.9899C>G
NG_008973.2:g.9899C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649637.2:c.1129C>G MANE Select ENSP00000497483.1:p.Pro377Ala
ENST00000266991.2:c.1129C>G ENSP00000266991.2:p.Pro377Ala
NM_021044.2:c.1129C>G NP_066382.1:p.Pro377Ala
NM_021044.4:c.1129C>G MANE Select NP_066382.1:p.Pro377Ala
XM_017019380.1:c.988C>G XP_016874869.1:p.Pro330Ala
XM_017019381.1:c.787C>G XP_016874870.1:p.Pro263Ala
Search 100 bp 5'
Search 100 bp 3'