Canonical Allele Identifier: CA438057762

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996122G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002334G>T , CM000666.2:g.1002334G>T	GRCh38
NC_000004.11:g.996122G>T , CM000666.1:g.996122G>T	GRCh37
NC_000004.10:g.986122G>T	NCBI36
NG_008103.1:g.20338G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1038G>T	ENSP00000247933.4:p.Leu346=
ENST00000514224.2:c.1038G>T MANE Select	ENSP00000425081.2:p.Leu346=
ENST00000652070.1:n.1094G>T
ENST00000247933.8:c.1038G>T	ENSP00000247933.4:p.Leu346=
ENST00000514224.1:c.642G>T	ENSP00000425081.1:p.Leu214=
ENST00000514698.5:n.1145G>T
NM_000203.4:c.1038G>T	NP_000194.2:p.Leu346=
NR_110313.1:n.1126G>T
XM_006713882.2:c.642G>T	XP_006713945.1:p.Leu214=
XM_011513459.1:c.1104G>T	XP_011511761.1:p.Leu368=
XM_011513460.1:c.897G>T	XP_011511762.1:p.Leu299=
XM_011513461.1:c.831G>T	XP_011511763.1:p.Leu277=
XM_011513462.1:c.750G>T	XP_011511764.1:p.Leu250=
XM_011513463.1:c.750G>T	XP_011511765.1:p.Leu250=
XR_924947.1:n.1107G>T
NM_000203.5:c.1038G>T MANE Select	NP_000194.2:p.Leu346=
NM_001363576.1:c.642G>T	NP_001350505.1:p.Leu214=
XM_011513461.2:c.831G>T	XP_011511763.1:p.Leu277=
XM_017008163.1:c.78G>T	XP_016863652.1:p.Leu26=