Canonical Allele Identifier: CA4046974

Gene: IYD

Linked Data

• dbSNP Id: rs368637142
• ExAC: 6:150710622 T / C
• gnomAD v2: 6-150710622-T-C
• gnomAD v4: 6-150389486-T-C
• MyVariant Identifiers: chr6:g.150710622T>C (hg19) ; chr6:g.150710622_150710625delinsCTCA (hg19) ; chr6:g.150389486T>C (hg38) ; chr6:g.150389486_150389489delinsCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389486T>C , CM000668.2:g.150389486T>C	GRCh38
NC_000006.11:g.150710622T>C , CM000668.1:g.150710622T>C	GRCh37
NC_000006.10:g.150752315T>C	NCBI36
NG_016007.1:g.25595T>C
NG_016007.2:g.25595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.313T>C MANE Select	ENSP00000343763.4:p.Phe105Leu
ENST00000229447.9:c.313T>C	ENSP00000229447.5:p.Phe105Leu
ENST00000344419.7:c.313T>C	ENSP00000343763.3:p.Phe105Leu
ENST00000367335.7:c.313T>C	ENSP00000356304.3:p.Phe105Leu
ENST00000392255.7:c.313T>C	ENSP00000376084.3:p.Phe105Leu
ENST00000392256.6:c.313T>C	ENSP00000376085.2:p.Phe105Leu
ENST00000422583.2:c.179+11T>C	ENSP00000397342.2:n.179+11T>C
ENST00000425615.3:c.148T>C	ENSP00000390081.3:p.Phe50Leu
ENST00000500320.7:c.313T>C	ENSP00000441276.1:p.Phe105Leu
ENST00000546121.1:n.256T>C
NM_001164694.1:c.313T>C	NP_001158166.1:p.Phe105Leu
NM_001164695.1:c.313T>C	NP_001158167.1:p.Phe105Leu
NM_203395.2:c.313T>C	NP_981932.1:p.Phe105Leu
XM_006715478.2:c.313T>C	XP_006715541.1:p.Phe105Leu
XM_006715479.2:c.148T>C	XP_006715542.1:p.Phe50Leu
XR_245516.3:n.476T>C
NM_001318495.1:c.124+11T>C	NP_001305424.1:n.124+11T>C
NR_134655.1:n.453T>C
XM_006715478.3:c.313T>C	XP_006715541.1:p.Phe105Leu
XM_006715479.3:c.148T>C	XP_006715542.1:p.Phe50Leu
NM_001164694.2:c.313T>C	NP_001158166.1:p.Phe105Leu
NM_001164695.2:c.313T>C	NP_001158167.1:p.Phe105Leu
NM_001318495.2:c.124+11T>C	NP_001305424.1:n.124+11T>C
NM_203395.3:c.313T>C MANE Select	NP_981932.1:p.Phe105Leu
NR_134655.2:n.333T>C