Canonical Allele Identifier: CA2680762386

Gene: IYD

Linked Data

• gnomAD v4: 6-150398625-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150398625A>C , CM000668.2:g.150398625A>C	GRCh38
NC_000006.11:g.150719761A>C , CM000668.1:g.150719761A>C	GRCh37
NC_000006.10:g.150761454A>C	NCBI36
NG_016007.1:g.34734A>C
NG_016007.2:g.34734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344419.8:c.*388A>C MANE Select	ENSP00000343763.4:n.*388A>C
ENST00000229447.9:c.*488A>C	ENSP00000229447.5:n.*488A>C
ENST00000344419.7:c.*388A>C	ENSP00000343763.3:n.*388A>C
NM_001164694.1:c.*488A>C	NP_001158166.1:n.*488A>C
NM_001164695.1:c.*575A>C	NP_001158167.1:n.*575A>C
NM_203395.2:c.*388A>C	NP_981932.1:n.*388A>C
NM_001318495.1:c.*388A>C	NP_001305424.1:n.*388A>C
NR_134655.1:n.1571A>C
NM_001164694.2:c.*488A>C	NP_001158166.1:n.*488A>C
NM_001164695.2:c.*575A>C	NP_001158167.1:n.*575A>C
NM_001318495.2:c.*388A>C	NP_001305424.1:n.*388A>C
NM_203395.3:c.*388A>C MANE Select	NP_981932.1:n.*388A>C
NR_134655.2:n.1451A>C