Canonical Allele Identifier: CA366029656
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389354G>C , CM000668.2:g.150389354G>C GRCh38
NC_000006.11:g.150710490G>C , CM000668.1:g.150710490G>C GRCh37
NC_000006.10:g.150752183G>C NCBI36
NG_016007.1:g.25463G>C
NG_016007.2:g.25463G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344419.8:c.181G>C MANE Select ENSP00000343763.4:p.Ala61Pro
ENST00000229447.9:c.181G>C ENSP00000229447.5:p.Ala61Pro
ENST00000344419.7:c.181G>C ENSP00000343763.3:p.Ala61Pro
ENST00000367335.7:c.181G>C ENSP00000356304.3:p.Ala61Pro
ENST00000392255.7:c.181G>C ENSP00000376084.3:p.Ala61Pro
ENST00000392256.6:c.181G>C ENSP00000376085.2:p.Ala61Pro
ENST00000422583.2:c.58G>C ENSP00000397342.2:p.Ala20Pro
ENST00000425615.3:c.16G>C ENSP00000390081.3:p.Ala6Pro
ENST00000500320.7:c.181G>C ENSP00000441276.1:p.Ala61Pro
ENST00000546121.1:n.124G>C
NM_001164694.1:c.181G>C NP_001158166.1:p.Ala61Pro
NM_001164695.1:c.181G>C NP_001158167.1:p.Ala61Pro
NM_203395.2:c.181G>C NP_981932.1:p.Ala61Pro
XM_006715478.2:c.181G>C XP_006715541.1:p.Ala61Pro
XM_006715479.2:c.16G>C XP_006715542.1:p.Ala6Pro
XR_245516.3:n.344G>C
NM_001318495.1:c.3G>C NP_001305424.1:p.Met1Ile
NR_134655.1:n.321G>C
XM_006715478.3:c.181G>C XP_006715541.1:p.Ala61Pro
XM_006715479.3:c.16G>C XP_006715542.1:p.Ala6Pro
NM_001164694.2:c.181G>C NP_001158166.1:p.Ala61Pro
NM_001164695.2:c.181G>C NP_001158167.1:p.Ala61Pro
NM_001318495.2:c.3G>C NP_001305424.1:p.Met1Ile
NM_203395.3:c.181G>C MANE Select NP_981932.1:p.Ala61Pro
NR_134655.2:n.201G>C