Canonical Allele Identifier: CA414522290

Gene: IDS

Linked Data

• dbSNP Id: rs1214037736
• gnomAD v4: X-149498181-T-G
• MyVariant Identifiers: chrX:g.148579712T>G (hg19) ; chrX:g.149498181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498181T>G , CM000685.2:g.149498181T>G	GRCh38
NC_000023.10:g.148579712T>G , CM000685.1:g.148579712T>G	GRCh37
NC_000023.9:g.148387617T>G	NCBI36
NG_011900.3:g.12154A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.634A>C MANE Select	ENSP00000339801.6:p.Met212Leu
ENST00000651111.1:c.1A>C	ENSP00000498395.1:p.Met1Leu
ENST00000340855.10:c.634A>C	ENSP00000339801.6:p.Met212Leu
ENST00000370441.8:c.634A>C	ENSP00000359470.4:p.Met212Leu
ENST00000422081.6:c.1A>C	ENSP00000477056.1:p.Met1Leu
ENST00000441880.1:n.114-11083A>C
ENST00000464251.5:c.560A>C	ENSP00000428980.1:n.560A>C
ENST00000466019.1:n.86A>C
ENST00000466323.5:c.634A>C	ENSP00000418264.1:p.Met212Leu
ENST00000490775.5:n.419A>C
NM_000202.6:c.634A>C	NP_000193.1:p.Met212Leu
NM_001166550.2:c.364A>C	NP_001160022.1:p.Met122Leu
NM_006123.4:c.634A>C	NP_006114.1:p.Met212Leu
NR_104128.1:n.851A>C
NM_000202.7:c.634A>C	NP_000193.1:p.Met212Leu
NM_001166550.3:c.364A>C	NP_001160022.1:p.Met122Leu
NM_000202.8:c.634A>C MANE Select	NP_000193.1:p.Met212Leu
NM_001166550.4:c.364A>C	NP_001160022.1:p.Met122Leu
NM_006123.5:c.634A>C	NP_006114.1:p.Met212Leu
NR_104128.2:n.803A>C