Canonical Allele Identifier: CA366029655
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389353T>G , CM000668.2:g.150389353T>G GRCh38
NC_000006.11:g.150710489T>G , CM000668.1:g.150710489T>G GRCh37
NC_000006.10:g.150752182T>G NCBI36
NG_016007.1:g.25462T>G
NG_016007.2:g.25462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.180T>G MANE Select ENSP00000343763.4:p.Asp60Glu
ENST00000229447.9:c.180T>G ENSP00000229447.5:p.Asp60Glu
ENST00000344419.7:c.180T>G ENSP00000343763.3:p.Asp60Glu
ENST00000367335.7:c.180T>G ENSP00000356304.3:p.Asp60Glu
ENST00000392255.7:c.180T>G ENSP00000376084.3:p.Asp60Glu
ENST00000392256.6:c.180T>G ENSP00000376085.2:p.Asp60Glu
ENST00000422583.2:c.57T>G ENSP00000397342.2:p.Asp19Glu
ENST00000425615.3:c.15T>G ENSP00000390081.3:p.Asp5Glu
ENST00000500320.7:c.180T>G ENSP00000441276.1:p.Asp60Glu
ENST00000546121.1:n.123T>G
NM_001164694.1:c.180T>G NP_001158166.1:p.Asp60Glu
NM_001164695.1:c.180T>G NP_001158167.1:p.Asp60Glu
NM_203395.2:c.180T>G NP_981932.1:p.Asp60Glu
XM_006715478.2:c.180T>G XP_006715541.1:p.Asp60Glu
XM_006715479.2:c.15T>G XP_006715542.1:p.Asp5Glu
XR_245516.3:n.343T>G
NM_001318495.1:c.2T>G NP_001305424.1:p.Met1Arg
NR_134655.1:n.320T>G
XM_006715478.3:c.180T>G XP_006715541.1:p.Asp60Glu
XM_006715479.3:c.15T>G XP_006715542.1:p.Asp5Glu
NM_001164694.2:c.180T>G NP_001158166.1:p.Asp60Glu
NM_001164695.2:c.180T>G NP_001158167.1:p.Asp60Glu
NM_001318495.2:c.2T>G NP_001305424.1:p.Met1Arg
NM_203395.3:c.180T>G MANE Select NP_981932.1:p.Asp60Glu
NR_134655.2:n.200T>G