Canonical Allele Identifier: CA10537483

Gene: IDS

Linked Data

• dbSNP Id: rs782375760
• ExAC: X:148564798 C / G
• gnomAD v2: X-148564798-C-G
• gnomAD v4: X-149483267-C-G
• MyVariant Identifiers: chrX:g.148564798C>G (hg19) ; chrX:g.149483267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483267C>G , CM000685.2:g.149483267C>G	GRCh38
NC_000023.10:g.148564798C>G , CM000685.1:g.148564798C>G	GRCh37
NC_000023.9:g.148372703C>G	NCBI36
NG_011900.3:g.27068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181-49G>C MANE Select	ENSP00000339801.6:n.1181-49G>C
ENST00000651111.1:c.548-49G>C	ENSP00000498395.1:n.548-49G>C
ENST00000340855.10:c.1181-49G>C	ENSP00000339801.6:n.1181-49G>C
ENST00000422081.6:c.548-49G>C	ENSP00000477056.1:n.548-49G>C
ENST00000441880.1:n.288-49G>C
NM_000202.6:c.1181-49G>C	NP_000193.1:n.1181-49G>C
NM_001166550.2:c.911-49G>C	NP_001160022.1:n.911-49G>C
NM_000202.7:c.1181-49G>C	NP_000193.1:n.1181-49G>C
NM_001166550.3:c.911-49G>C	NP_001160022.1:n.911-49G>C
NM_000202.8:c.1181-49G>C MANE Select	NP_000193.1:n.1181-49G>C
NM_001166550.4:c.911-49G>C	NP_001160022.1:n.911-49G>C