Canonical Allele Identifier: CA414520314

Gene: IDS

Linked Data

• COSMIC: COSM3800456 ; COSM3800457
• MyVariant Identifiers: chrX:g.148571931A>G (hg19) ; chrX:g.149490400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490400A>G , CM000685.2:g.149490400A>G	GRCh38
NC_000023.10:g.148571931A>G , CM000685.1:g.148571931A>G	GRCh37
NC_000023.9:g.148379836A>G	NCBI36
NG_011900.3:g.19935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.920T>C MANE Select	ENSP00000339801.6:p.Leu307Ser
ENST00000651111.1:c.287T>C	ENSP00000498395.1:p.Leu96Ser
ENST00000340855.10:c.920T>C	ENSP00000339801.6:p.Leu307Ser
ENST00000370441.8:c.920T>C	ENSP00000359470.4:p.Leu307Ser
ENST00000422081.6:c.287T>C	ENSP00000477056.1:p.Leu96Ser
ENST00000441880.1:n.114-3302T>C
ENST00000464251.5:c.846T>C	ENSP00000428980.1:n.846T>C
ENST00000466323.5:c.*111T>C	ENSP00000418264.1:n.*111T>C
ENST00000490775.5:n.705T>C
NM_000202.6:c.920T>C	NP_000193.1:p.Leu307Ser
NM_001166550.2:c.650T>C	NP_001160022.1:p.Leu217Ser
NM_006123.4:c.920T>C	NP_006114.1:p.Leu307Ser
NR_104128.1:n.1267T>C
NM_000202.7:c.920T>C	NP_000193.1:p.Leu307Ser
NM_001166550.3:c.650T>C	NP_001160022.1:p.Leu217Ser
NM_000202.8:c.920T>C MANE Select	NP_000193.1:p.Leu307Ser
NM_001166550.4:c.650T>C	NP_001160022.1:p.Leu217Ser
NM_006123.5:c.920T>C	NP_006114.1:p.Leu307Ser
NR_104128.2:n.1219T>C