Canonical Allele Identifier: CA354072720
Gene: HGD HGNC NCBI

Linked Data

dbSNP Id: rs1940644825
MyVariant Identifiers: chr3:g.120352029T>C (hg19) chr3:g.120633182T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120633182T>C , CM000665.2:g.120633182T>C GRCh38
NC_000003.11:g.120352029T>C , CM000665.1:g.120352029T>C GRCh37
NC_000003.10:g.121834719T>C NCBI36
NG_011957.1:g.54300A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000283871.10:c.1153A>G MANE Select ENSP00000283871.5:p.Lys385Glu
ENST00000283871.9:c.1153A>G ENSP00000283871.5:p.Lys385Glu
ENST00000470321.1:n.493A>G
ENST00000492108.5:c.432A>G ENSP00000419838.1:n.432A>G
NM_000187.3:c.1153A>G NP_000178.2:p.Lys385Glu
XM_005247412.1:c.928A>G XP_005247469.1:p.Lys310Glu
XM_005247412.2:c.928A>G XP_005247469.1:p.Lys310Glu
XM_017006277.2:c.730A>G XP_016861766.1:p.Lys244Glu
NM_000187.4:c.1153A>G MANE Select NP_000178.2:p.Lys385Glu
Search 100 bp 5'
Search 100 bp 3'