Canonical Allele Identifier: CA366030420

Gene: IYD

Linked Data

• gnomAD v4: 6-150389458-A-C
• MyVariant Identifiers: chr6:g.150710594A>C (hg19) ; chr6:g.150389458A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389458A>C , CM000668.2:g.150389458A>C	GRCh38
NC_000006.11:g.150710594A>C , CM000668.1:g.150710594A>C	GRCh37
NC_000006.10:g.150752287A>C	NCBI36
NG_016007.1:g.25567A>C
NG_016007.2:g.25567A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.285A>C MANE Select	ENSP00000343763.4:p.Glu95Asp
ENST00000229447.9:c.285A>C	ENSP00000229447.5:p.Glu95Asp
ENST00000344419.7:c.285A>C	ENSP00000343763.3:p.Glu95Asp
ENST00000367335.7:c.285A>C	ENSP00000356304.3:p.Glu95Asp
ENST00000392255.7:c.285A>C	ENSP00000376084.3:p.Glu95Asp
ENST00000392256.6:c.285A>C	ENSP00000376085.2:p.Glu95Asp
ENST00000422583.2:c.162A>C	ENSP00000397342.2:p.Glu54Asp
ENST00000425615.3:c.120A>C	ENSP00000390081.3:p.Glu40Asp
ENST00000500320.7:c.285A>C	ENSP00000441276.1:p.Glu95Asp
ENST00000546121.1:n.228A>C
NM_001164694.1:c.285A>C	NP_001158166.1:p.Glu95Asp
NM_001164695.1:c.285A>C	NP_001158167.1:p.Glu95Asp
NM_203395.2:c.285A>C	NP_981932.1:p.Glu95Asp
XM_006715478.2:c.285A>C	XP_006715541.1:p.Glu95Asp
XM_006715479.2:c.120A>C	XP_006715542.1:p.Glu40Asp
XR_245516.3:n.448A>C
NM_001318495.1:c.107A>C	NP_001305424.1:p.Asn36Thr
NR_134655.1:n.425A>C
XM_006715478.3:c.285A>C	XP_006715541.1:p.Glu95Asp
XM_006715479.3:c.120A>C	XP_006715542.1:p.Glu40Asp
NM_001164694.2:c.285A>C	NP_001158166.1:p.Glu95Asp
NM_001164695.2:c.285A>C	NP_001158167.1:p.Glu95Asp
NM_001318495.2:c.107A>C	NP_001305424.1:p.Asn36Thr
NM_203395.3:c.285A>C MANE Select	NP_981932.1:p.Glu95Asp
NR_134655.2:n.305A>C