Canonical Allele Identifier: CA366030288
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389440G>T , CM000668.2:g.150389440G>T GRCh38
NC_000006.11:g.150710576G>T , CM000668.1:g.150710576G>T GRCh37
NC_000006.10:g.150752269G>T NCBI36
NG_016007.1:g.25549G>T
NG_016007.2:g.25549G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344419.8:c.267G>T MANE Select ENSP00000343763.4:p.Arg89Ser
ENST00000229447.9:c.267G>T ENSP00000229447.5:p.Arg89Ser
ENST00000344419.7:c.267G>T ENSP00000343763.3:p.Arg89Ser
ENST00000367335.7:c.267G>T ENSP00000356304.3:p.Arg89Ser
ENST00000392255.7:c.267G>T ENSP00000376084.3:p.Arg89Ser
ENST00000392256.6:c.267G>T ENSP00000376085.2:p.Arg89Ser
ENST00000422583.2:c.144G>T ENSP00000397342.2:p.Arg48Ser
ENST00000425615.3:c.102G>T ENSP00000390081.3:p.Arg34Ser
ENST00000500320.7:c.267G>T ENSP00000441276.1:p.Arg89Ser
ENST00000546121.1:n.210G>T
NM_001164694.1:c.267G>T NP_001158166.1:p.Arg89Ser
NM_001164695.1:c.267G>T NP_001158167.1:p.Arg89Ser
NM_203395.2:c.267G>T NP_981932.1:p.Arg89Ser
XM_006715478.2:c.267G>T XP_006715541.1:p.Arg89Ser
XM_006715479.2:c.102G>T XP_006715542.1:p.Arg34Ser
XR_245516.3:n.430G>T
NM_001318495.1:c.89G>T NP_001305424.1:p.Gly30Val
NR_134655.1:n.407G>T
XM_006715478.3:c.267G>T XP_006715541.1:p.Arg89Ser
XM_006715479.3:c.102G>T XP_006715542.1:p.Arg34Ser
NM_001164694.2:c.267G>T NP_001158166.1:p.Arg89Ser
NM_001164695.2:c.267G>T NP_001158167.1:p.Arg89Ser
NM_001318495.2:c.89G>T NP_001305424.1:p.Gly30Val
NM_203395.3:c.267G>T MANE Select NP_981932.1:p.Arg89Ser
NR_134655.2:n.287G>T