Canonical Allele Identifier: CA414522296

Gene: IDS

Linked Data

• gnomAD v4: X-149498183-T-G
• MyVariant Identifiers: chrX:g.148579714T>G (hg19) ; chrX:g.149498183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498183T>G , CM000685.2:g.149498183T>G	GRCh38
NC_000023.10:g.148579714T>G , CM000685.1:g.148579714T>G	GRCh37
NC_000023.9:g.148387619T>G	NCBI36
NG_011900.3:g.12152A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.632A>C MANE Select	ENSP00000339801.6:p.Lys211Thr
ENST00000651111.1:c.-2A>C	ENSP00000498395.1:n.-2A>C
ENST00000340855.10:c.632A>C	ENSP00000339801.6:p.Lys211Thr
ENST00000370441.8:c.632A>C	ENSP00000359470.4:p.Lys211Thr
ENST00000422081.6:c.-2A>C	ENSP00000477056.1:n.-2A>C
ENST00000441880.1:n.114-11085A>C
ENST00000464251.5:c.558A>C	ENSP00000428980.1:n.558A>C
ENST00000466019.1:n.84A>C
ENST00000466323.5:c.632A>C	ENSP00000418264.1:p.Lys211Thr
ENST00000490775.5:n.417A>C
NM_000202.6:c.632A>C	NP_000193.1:p.Lys211Thr
NM_001166550.2:c.362A>C	NP_001160022.1:p.Lys121Thr
NM_006123.4:c.632A>C	NP_006114.1:p.Lys211Thr
NR_104128.1:n.849A>C
NM_000202.7:c.632A>C	NP_000193.1:p.Lys211Thr
NM_001166550.3:c.362A>C	NP_001160022.1:p.Lys121Thr
NM_000202.8:c.632A>C MANE Select	NP_000193.1:p.Lys211Thr
NM_001166550.4:c.362A>C	NP_001160022.1:p.Lys121Thr
NM_006123.5:c.632A>C	NP_006114.1:p.Lys211Thr
NR_104128.2:n.801A>C