Canonical Allele Identifier: CA366029818

Gene: IYD

Linked Data

• MyVariant Identifiers: chr6:g.150710514G>C (hg19) ; chr6:g.150389378G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389378G>C , CM000668.2:g.150389378G>C	GRCh38
NC_000006.11:g.150710514G>C , CM000668.1:g.150710514G>C	GRCh37
NC_000006.10:g.150752207G>C	NCBI36
NG_016007.1:g.25487G>C
NG_016007.2:g.25487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.205G>C MANE Select	ENSP00000343763.4:p.Glu69Gln
ENST00000229447.9:c.205G>C	ENSP00000229447.5:p.Glu69Gln
ENST00000344419.7:c.205G>C	ENSP00000343763.3:p.Glu69Gln
ENST00000367335.7:c.205G>C	ENSP00000356304.3:p.Glu69Gln
ENST00000392255.7:c.205G>C	ENSP00000376084.3:p.Glu69Gln
ENST00000392256.6:c.205G>C	ENSP00000376085.2:p.Glu69Gln
ENST00000422583.2:c.82G>C	ENSP00000397342.2:p.Glu28Gln
ENST00000425615.3:c.40G>C	ENSP00000390081.3:p.Glu14Gln
ENST00000500320.7:c.205G>C	ENSP00000441276.1:p.Glu69Gln
ENST00000546121.1:n.148G>C
NM_001164694.1:c.205G>C	NP_001158166.1:p.Glu69Gln
NM_001164695.1:c.205G>C	NP_001158167.1:p.Glu69Gln
NM_203395.2:c.205G>C	NP_981932.1:p.Glu69Gln
XM_006715478.2:c.205G>C	XP_006715541.1:p.Glu69Gln
XM_006715479.2:c.40G>C	XP_006715542.1:p.Glu14Gln
XR_245516.3:n.368G>C
NM_001318495.1:c.27G>C	NP_001305424.1:p.Lys9Asn
NR_134655.1:n.345G>C
XM_006715478.3:c.205G>C	XP_006715541.1:p.Glu69Gln
XM_006715479.3:c.40G>C	XP_006715542.1:p.Glu14Gln
NM_001164694.2:c.205G>C	NP_001158166.1:p.Glu69Gln
NM_001164695.2:c.205G>C	NP_001158167.1:p.Glu69Gln
NM_001318495.2:c.27G>C	NP_001305424.1:p.Lys9Asn
NM_203395.3:c.205G>C MANE Select	NP_981932.1:p.Glu69Gln
NR_134655.2:n.225G>C