Canonical Allele Identifier: CA355962700

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002124-G-T
• MyVariant Identifiers: chr4:g.995912G>T (hg19) ; chr4:g.1002124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002124G>T , CM000666.2:g.1002124G>T	GRCh38
NC_000004.11:g.995912G>T , CM000666.1:g.995912G>T	GRCh37
NC_000004.10:g.985912G>T	NCBI36
NG_008103.1:g.20128G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.935G>T	ENSP00000247933.4:p.Trp312Leu
ENST00000514224.2:c.935G>T MANE Select	ENSP00000425081.2:p.Trp312Leu
ENST00000652070.1:n.991G>T
ENST00000247933.8:c.935G>T	ENSP00000247933.4:p.Trp312Leu
ENST00000514224.1:c.539G>T	ENSP00000425081.1:p.Trp180Leu
ENST00000514698.5:n.935G>T
NM_000203.4:c.935G>T	NP_000194.2:p.Trp312Leu
NR_110313.1:n.1023G>T
XM_006713882.2:c.539G>T	XP_006713945.1:p.Trp180Leu
XM_011513459.1:c.894G>T	XP_011511761.1:p.Val298=
XM_011513460.1:c.794G>T	XP_011511762.1:p.Trp265Leu
XM_011513461.1:c.728G>T	XP_011511763.1:p.Trp243Leu
XM_011513462.1:c.647G>T	XP_011511764.1:p.Trp216Leu
XM_011513463.1:c.647G>T	XP_011511765.1:p.Trp216Leu
XR_924947.1:n.1004G>T
NM_000203.5:c.935G>T MANE Select	NP_000194.2:p.Trp312Leu
NM_001363576.1:c.539G>T	NP_001350505.1:p.Trp180Leu
XM_011513461.2:c.728G>T	XP_011511763.1:p.Trp243Leu
XM_017008163.1:c.-26G>T	XP_016863652.1:n.-26G>T