Canonical Allele Identifier: CA150046187

Gene: IYD

Linked Data

• dbSNP Id: rs997040576
• gnomAD v2: 6-150720021-T-C
• gnomAD v3: 6-150398885-T-C
• gnomAD v4: 6-150398885-T-C
• MyVariant Identifiers: chr6:g.150720021T>C (hg19) ; chr6:g.150398885T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398885T>C , CM000668.2:g.150398885T>C	GRCh38
NC_000006.11:g.150720021T>C , CM000668.1:g.150720021T>C	GRCh37
NC_000006.10:g.150761714T>C	NCBI36
NG_016007.1:g.34994T>C
NG_016007.2:g.34994T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*648T>C MANE Select	ENSP00000343763.4:n.*648T>C
ENST00000229447.9:c.*748T>C	ENSP00000229447.5:n.*748T>C
ENST00000344419.7:c.*648T>C	ENSP00000343763.3:n.*648T>C
NM_001164694.1:c.*748T>C	NP_001158166.1:n.*748T>C
NM_001164695.1:c.*835T>C	NP_001158167.1:n.*835T>C
NM_203395.2:c.*648T>C	NP_981932.1:n.*648T>C
NM_001318495.1:c.*648T>C	NP_001305424.1:n.*648T>C
NR_134655.1:n.1831T>C
NM_001164694.2:c.*748T>C	NP_001158166.1:n.*748T>C
NM_001164695.2:c.*835T>C	NP_001158167.1:n.*835T>C
NM_001318495.2:c.*648T>C	NP_001305424.1:n.*648T>C
NM_203395.3:c.*648T>C MANE Select	NP_981932.1:n.*648T>C
NR_134655.2:n.1711T>C