Canonical Allele Identifier: CA4046968

Gene: IYD

Linked Data

• ClinVar Variation Id: 2378965
• ClinVar RCV Id: RCV002684102
• dbSNP Id: rs776135670
• ExAC: 6:150710577 T / C
• gnomAD v2: 6-150710577-T-C
• gnomAD v3: 6-150389441-T-C
• gnomAD v4: 6-150389441-T-C
• MyVariant Identifiers: chr6:g.150710577T>C (hg19) ; chr6:g.150389441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389441T>C , CM000668.2:g.150389441T>C	GRCh38
NC_000006.11:g.150710577T>C , CM000668.1:g.150710577T>C	GRCh37
NC_000006.10:g.150752270T>C	NCBI36
NG_016007.1:g.25550T>C
NG_016007.2:g.25550T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.268T>C MANE Select	ENSP00000343763.4:p.Ser90Pro
ENST00000229447.9:c.268T>C	ENSP00000229447.5:p.Ser90Pro
ENST00000344419.7:c.268T>C	ENSP00000343763.3:p.Ser90Pro
ENST00000367335.7:c.268T>C	ENSP00000356304.3:p.Ser90Pro
ENST00000392255.7:c.268T>C	ENSP00000376084.3:p.Ser90Pro
ENST00000392256.6:c.268T>C	ENSP00000376085.2:p.Ser90Pro
ENST00000422583.2:c.145T>C	ENSP00000397342.2:p.Ser49Pro
ENST00000425615.3:c.103T>C	ENSP00000390081.3:p.Ser35Pro
ENST00000500320.7:c.268T>C	ENSP00000441276.1:p.Ser90Pro
ENST00000546121.1:n.211T>C
NM_001164694.1:c.268T>C	NP_001158166.1:p.Ser90Pro
NM_001164695.1:c.268T>C	NP_001158167.1:p.Ser90Pro
NM_203395.2:c.268T>C	NP_981932.1:p.Ser90Pro
XM_006715478.2:c.268T>C	XP_006715541.1:p.Ser90Pro
XM_006715479.2:c.103T>C	XP_006715542.1:p.Ser35Pro
XR_245516.3:n.431T>C
NM_001318495.1:c.90T>C	NP_001305424.1:p.Gly30=
NR_134655.1:n.408T>C
XM_006715478.3:c.268T>C	XP_006715541.1:p.Ser90Pro
XM_006715479.3:c.103T>C	XP_006715542.1:p.Ser35Pro
NM_001164694.2:c.268T>C	NP_001158166.1:p.Ser90Pro
NM_001164695.2:c.268T>C	NP_001158167.1:p.Ser90Pro
NM_001318495.2:c.90T>C	NP_001305424.1:p.Gly30=
NM_203395.3:c.268T>C MANE Select	NP_981932.1:p.Ser90Pro
NR_134655.2:n.288T>C