Canonical Allele Identifier: CA4046990

Gene: IYD

Linked Data

• dbSNP Id: rs77732289
• ExAC: 6:150710681 T / C
• gnomAD v2: 6-150710681-T-C
• gnomAD v3: 6-150389545-T-C
• gnomAD v4: 6-150389545-T-C
• MyVariant Identifiers: chr6:g.150710681T>C (hg19) ; chr6:g.150389545T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389545T>C , CM000668.2:g.150389545T>C	GRCh38
NC_000006.11:g.150710681T>C , CM000668.1:g.150710681T>C	GRCh37
NC_000006.10:g.150752374T>C	NCBI36
NG_016007.1:g.25654T>C
NG_016007.2:g.25654T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.370+2T>C MANE Select	ENSP00000343763.4:n.370+2T>C
ENST00000229447.9:c.370+2T>C	ENSP00000229447.5:n.370+2T>C
ENST00000344419.7:c.370+2T>C	ENSP00000343763.3:n.370+2T>C
ENST00000367335.7:c.370+2T>C	ENSP00000356304.3:n.370+2T>C
ENST00000392255.7:c.370+2T>C	ENSP00000376084.3:n.370+2T>C
ENST00000392256.6:c.370+2T>C	ENSP00000376085.2:n.370+2T>C
ENST00000422583.2:c.179+70T>C	ENSP00000397342.2:n.179+70T>C
ENST00000425615.3:c.205+2T>C	ENSP00000390081.3:n.205+2T>C
ENST00000500320.7:c.370+2T>C	ENSP00000441276.1:n.370+2T>C
ENST00000546121.1:n.315T>C
NM_001164694.1:c.370+2T>C	NP_001158166.1:n.370+2T>C
NM_001164695.1:c.370+2T>C	NP_001158167.1:n.370+2T>C
NM_203395.2:c.370+2T>C	NP_981932.1:n.370+2T>C
XM_006715478.2:c.370+2T>C	XP_006715541.1:n.370+2T>C
XM_006715479.2:c.205+2T>C	XP_006715542.1:n.205+2T>C
XR_245516.3:n.533+2T>C
NM_001318495.1:c.124+70T>C	NP_001305424.1:n.124+70T>C
NR_134655.1:n.510+2T>C
XM_006715478.3:c.370+2T>C	XP_006715541.1:n.370+2T>C
XM_006715479.3:c.205+2T>C	XP_006715542.1:n.205+2T>C
NM_001164694.2:c.370+2T>C	NP_001158166.1:n.370+2T>C
NM_001164695.2:c.370+2T>C	NP_001158167.1:n.370+2T>C
NM_001318495.2:c.124+70T>C	NP_001305424.1:n.124+70T>C
NM_203395.3:c.370+2T>C MANE Select	NP_981932.1:n.370+2T>C
NR_134655.2:n.390+2T>C