Canonical Allele Identifier: CA414520256

Gene: IDS

Linked Data

• gnomAD v4: X-149490390-C-G
• MyVariant Identifiers: chrX:g.148571921C>G (hg19) ; chrX:g.149490390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490390C>G , CM000685.2:g.149490390C>G	GRCh38
NC_000023.10:g.148571921C>G , CM000685.1:g.148571921C>G	GRCh37
NC_000023.9:g.148379826C>G	NCBI36
NG_011900.3:g.19945G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.930G>C MANE Select	ENSP00000339801.6:p.Gln310His
ENST00000651111.1:c.297G>C	ENSP00000498395.1:p.Gln99His
ENST00000340855.10:c.930G>C	ENSP00000339801.6:p.Gln310His
ENST00000370441.8:c.930G>C	ENSP00000359470.4:p.Gln310His
ENST00000422081.6:c.297G>C	ENSP00000477056.1:p.Gln99His
ENST00000441880.1:n.114-3292G>C
ENST00000464251.5:c.856G>C	ENSP00000428980.1:n.856G>C
ENST00000466323.5:c.*121G>C	ENSP00000418264.1:n.*121G>C
ENST00000490775.5:n.715G>C
NM_000202.6:c.930G>C	NP_000193.1:p.Gln310His
NM_001166550.2:c.660G>C	NP_001160022.1:p.Gln220His
NM_006123.4:c.930G>C	NP_006114.1:p.Gln310His
NR_104128.1:n.1277G>C
NM_000202.7:c.930G>C	NP_000193.1:p.Gln310His
NM_001166550.3:c.660G>C	NP_001160022.1:p.Gln220His
NM_000202.8:c.930G>C MANE Select	NP_000193.1:p.Gln310His
NM_001166550.4:c.660G>C	NP_001160022.1:p.Gln220His
NM_006123.5:c.930G>C	NP_006114.1:p.Gln310His
NR_104128.2:n.1229G>C