Canonical Allele Identifier: CA571090937

Gene: IYD

Linked Data

• dbSNP Id: rs60286185
• gnomAD v2: 6-150719742-C-A
• gnomAD v3: 6-150398606-C-A
• gnomAD v4: 6-150398606-C-A
• MyVariant Identifiers: chr6:g.150719742C>A (hg19) ; chr6:g.150398606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398606C>A , CM000668.2:g.150398606C>A	GRCh38
NC_000006.11:g.150719742C>A , CM000668.1:g.150719742C>A	GRCh37
NC_000006.10:g.150761435C>A	NCBI36
NG_016007.1:g.34715C>A
NG_016007.2:g.34715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*369C>A MANE Select	ENSP00000343763.4:n.*369C>A
ENST00000229447.9:c.*469C>A	ENSP00000229447.5:n.*469C>A
ENST00000344419.7:c.*369C>A	ENSP00000343763.3:n.*369C>A
NM_001164694.1:c.*469C>A	NP_001158166.1:n.*469C>A
NM_001164695.1:c.*556C>A	NP_001158167.1:n.*556C>A
NM_203395.2:c.*369C>A	NP_981932.1:n.*369C>A
NM_001318495.1:c.*369C>A	NP_001305424.1:n.*369C>A
NR_134655.1:n.1552C>A
NM_001164694.2:c.*469C>A	NP_001158166.1:n.*469C>A
NM_001164695.2:c.*556C>A	NP_001158167.1:n.*556C>A
NM_001318495.2:c.*369C>A	NP_001305424.1:n.*369C>A
NM_203395.3:c.*369C>A MANE Select	NP_981932.1:n.*369C>A
NR_134655.2:n.1432C>A