Canonical Allele Identifier: CA479715762
Gene: DHH HGNC NCBI

Linked Data

dbSNP Id: rs1939264444
MyVariant Identifiers: chr12:g.49483708G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49089925G>C , CM000674.2:g.49089925G>C GRCh38
NC_000012.11:g.49483708G>C , CM000674.1:g.49483708G>C GRCh37
NC_000012.10:g.47769975G>C NCBI36
NG_008973.1:g.9895C>G
NG_008973.2:g.9895C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000649637.2:c.1125C>G MANE Select ENSP00000497483.1:p.Val375=
ENST00000266991.2:c.1125C>G ENSP00000266991.2:p.Val375=
NM_021044.2:c.1125C>G NP_066382.1:p.Val375=
NM_021044.4:c.1125C>G MANE Select NP_066382.1:p.Val375=
XM_017019380.1:c.984C>G XP_016874869.1:p.Val328=
XM_017019381.1:c.783C>G XP_016874870.1:p.Val261=
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