Canonical Allele Identifier: CA435225767
Gene: HGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.120352030G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633183G>C , CM000665.2:g.120633183G>C GRCh38
NC_000003.11:g.120352030G>C , CM000665.1:g.120352030G>C GRCh37
NC_000003.10:g.121834720G>C NCBI36
NG_011957.1:g.54299C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1152C>G MANE Select ENSP00000283871.5:p.Val384=
ENST00000283871.9:c.1152C>G ENSP00000283871.5:p.Val384=
ENST00000470321.1:n.492C>G
ENST00000492108.5:c.431C>G ENSP00000419838.1:n.431C>G
NM_000187.3:c.1152C>G NP_000178.2:p.Val384=
XM_005247412.1:c.927C>G XP_005247469.1:p.Val309=
XM_005247412.2:c.927C>G XP_005247469.1:p.Val309=
XM_017006277.2:c.729C>G XP_016861766.1:p.Val243=
NM_000187.4:c.1152C>G MANE Select NP_000178.2:p.Val384=
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