Canonical Allele Identifier: CA366030841

Gene: IYD

Linked Data

• gnomAD v4: 6-150389532-T-C
• MyVariant Identifiers: chr6:g.150710668T>C (hg19) ; chr6:g.150389532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389532T>C , CM000668.2:g.150389532T>C	GRCh38
NC_000006.11:g.150710668T>C , CM000668.1:g.150710668T>C	GRCh37
NC_000006.10:g.150752361T>C	NCBI36
NG_016007.1:g.25641T>C
NG_016007.2:g.25641T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.359T>C MANE Select	ENSP00000343763.4:p.Ile120Thr
ENST00000229447.9:c.359T>C	ENSP00000229447.5:p.Ile120Thr
ENST00000344419.7:c.359T>C	ENSP00000343763.3:p.Ile120Thr
ENST00000367335.7:c.359T>C	ENSP00000356304.3:p.Ile120Thr
ENST00000392255.7:c.359T>C	ENSP00000376084.3:p.Ile120Thr
ENST00000392256.6:c.359T>C	ENSP00000376085.2:p.Ile120Thr
ENST00000422583.2:c.179+57T>C	ENSP00000397342.2:n.179+57T>C
ENST00000425615.3:c.194T>C	ENSP00000390081.3:p.Ile65Thr
ENST00000500320.7:c.359T>C	ENSP00000441276.1:p.Ile120Thr
ENST00000546121.1:n.302T>C
NM_001164694.1:c.359T>C	NP_001158166.1:p.Ile120Thr
NM_001164695.1:c.359T>C	NP_001158167.1:p.Ile120Thr
NM_203395.2:c.359T>C	NP_981932.1:p.Ile120Thr
XM_006715478.2:c.359T>C	XP_006715541.1:p.Ile120Thr
XM_006715479.2:c.194T>C	XP_006715542.1:p.Ile65Thr
XR_245516.3:n.522T>C
NM_001318495.1:c.124+57T>C	NP_001305424.1:n.124+57T>C
NR_134655.1:n.499T>C
XM_006715478.3:c.359T>C	XP_006715541.1:p.Ile120Thr
XM_006715479.3:c.194T>C	XP_006715542.1:p.Ile65Thr
NM_001164694.2:c.359T>C	NP_001158166.1:p.Ile120Thr
NM_001164695.2:c.359T>C	NP_001158167.1:p.Ile120Thr
NM_001318495.2:c.124+57T>C	NP_001305424.1:n.124+57T>C
NM_203395.3:c.359T>C MANE Select	NP_981932.1:p.Ile120Thr
NR_134655.2:n.379T>C