Allele Registry

Canonical Allele Identifier: CA220489

Gene: IDS HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.149505034C>G

GRCh37 chrX:g.148586564C>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000173081

ClinVar Variation:

92614

dbSNP:

398123247

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149505034C>G , CM000685.2:g.149505034C>G	GRCh38
NC_000023.10:g.148586564C>G , CM000685.1:g.148586564C>G	GRCh37
NC_000023.9:g.148394468C>G	NCBI36
NG_011900.3:g.5301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.103+1G>C MANE Select	ENSP00000339801.6:n.103+1G>C
ENST00000651111.1:c.-215-3997G>C	ENSP00000498395.1:n.-215-3997G>C
ENST00000340855.10:c.103+1G>C	ENSP00000339801.6:n.103+1G>C
ENST00000370441.8:c.103+1G>C	ENSP00000359470.4:n.103+1G>C
ENST00000422081.6:c.-215-3997G>C	ENSP00000477056.1:n.-215-3997G>C
ENST00000427113.2:n.770-2811G>C
ENST00000428056.6:c.103+1G>C	ENSP00000390241.2:n.103+1G>C
ENST00000441880.1:n.114-17936G>C
ENST00000466323.5:c.103+1G>C	ENSP00000418264.1:n.103+1G>C
ENST00000521702.1:c.103+1G>C	ENSP00000429745.1:n.103+1G>C
ENST00000523759.5:n.533-3997G>C
NM_000202.6:c.103+1G>C	NP_000193.1:n.103+1G>C
NM_001166550.2:c.-124+1G>C	NP_001160022.1:n.-124+1G>C
NM_006123.4:c.103+1G>C	NP_006114.1:n.103+1G>C
NR_104128.1:n.320+1G>C
NM_000202.7:c.103+1G>C	NP_000193.1:n.103+1G>C
NM_001166550.3:c.-124+1G>C	NP_001160022.1:n.-124+1G>C
NM_000202.8:c.103+1G>C MANE Select	NP_000193.1:n.103+1G>C
NM_001166550.4:c.-124+1G>C	NP_001160022.1:n.-124+1G>C
NM_006123.5:c.103+1G>C	NP_006114.1:n.103+1G>C
NR_104128.2:n.272+1G>C

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