Canonical Allele Identifier: CA571090987

Gene: IYD

Linked Data

• dbSNP Id: rs1479181800
• gnomAD v2: 6-150720172-C-T
• gnomAD v3: 6-150399036-C-T
• gnomAD v4: 6-150399036-C-T
• MyVariant Identifiers: chr6:g.150720172C>T (hg19) ; chr6:g.150399036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150399036C>T , CM000668.2:g.150399036C>T	GRCh38
NC_000006.11:g.150720172C>T , CM000668.1:g.150720172C>T	GRCh37
NC_000006.10:g.150761865C>T	NCBI36
NG_016007.1:g.35145C>T
NG_016007.2:g.35145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*799C>T MANE Select	ENSP00000343763.4:n.*799C>T
ENST00000229447.9:c.*899C>T	ENSP00000229447.5:n.*899C>T
ENST00000344419.7:c.*799C>T	ENSP00000343763.3:n.*799C>T
NM_001164694.1:c.*899C>T	NP_001158166.1:n.*899C>T
NM_001164695.1:c.*986C>T	NP_001158167.1:n.*986C>T
NM_203395.2:c.*799C>T	NP_981932.1:n.*799C>T
NM_001318495.1:c.*799C>T	NP_001305424.1:n.*799C>T
NR_134655.1:n.1982C>T
NM_001164694.2:c.*899C>T	NP_001158166.1:n.*899C>T
NM_001164695.2:c.*986C>T	NP_001158167.1:n.*986C>T
NM_001318495.2:c.*799C>T	NP_001305424.1:n.*799C>T
NM_203395.3:c.*799C>T MANE Select	NP_981932.1:n.*799C>T
NR_134655.2:n.1862C>T