Canonical Allele Identifier: CA413921766

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653416T>C (hg19) ; chrX:g.101398428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398428T>C , CM000685.2:g.101398428T>C	GRCh38
NC_000023.10:g.100653416T>C , CM000685.1:g.100653416T>C	GRCh37
NC_000023.9:g.100540072T>C	NCBI36
NG_007119.1:g.14536A>G , LRG_672:g.14536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*387A>G (GLA)	ENSP00000501124.2:n.*387A>G
ENST00000674127.2:c.*444A>G (GLA)	ENSP00000501044.2:n.*444A>G
ENST00000710365.1:c.1016A>G (GLA)	ENSP00000518234.1:p.Lys339Arg
ENST00000218516.4:c.941A>G (GLA) MANE Select	ENSP00000218516.4:p.Lys314Arg
ENST00000466414.2:n.1077A>G (GLA)
ENST00000468823.2:n.2093A>G (GLA)
ENST00000479445.2:n.1555A>G (GLA)
ENST00000480513.6:c.*249A>G (GLA)	ENSP00000497055.1:n.*249A>G
ENST00000486121.6:c.986A>G (GLA)
ENST00000649178.1:c.1064A>G (GLA)	ENSP00000498186.1:p.Lys355Arg
ENST00000674127.1:c.1041A>G (GLA)	ENSP00000501044.1:n.1041A>G
ENST00000674142.1:n.1245A>G (GLA)
ENST00000674634.2:c.941A>G (GLA)	ENSP00000502629.2:p.Lys314Arg
ENST00000675592.1:c.802-329A>G (GLA)	ENSP00000502239.1:n.802-329A>G
ENST00000675799.1:c.*466A>G (GLA)	ENSP00000502661.1:n.*466A>G
ENST00000675968.1:n.3812A>G (GLA)
ENST00000676156.1:c.905A>G (GLA)	ENSP00000501730.1:p.Lys302Arg
ENST00000676372.1:c.1007A>G (GLA)	ENSP00000502805.1:n.1007A>G
ENST00000218516.3:c.941A>G (GLA)	ENSP00000218516.3:p.Lys314Arg
ENST00000409170.3:c.300+2971T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2971T>C
ENST00000409338.5:c.177+6606T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6606T>C
ENST00000466414.1:n.267A>G (GLA)
ENST00000493905.6:c.*329A>G (GLA)	ENSP00000476935.1:n.*329A>G
NM_000169.2:c.941A>G , LRG_672t1:c.941A>G (GLA)	NP_000160.1:p.Lys314Arg
NM_001199973.1:c.408+2971T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2971T>C
NM_001199974.1:c.285+6606T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6606T>C
XR_938397.1:n.1026A>G (GLA)
XR_938397.2:n.1047A>G (GLA)
NM_001199973.2:c.300+2971T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2971T>C
NM_001199974.2:c.177+6606T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6606T>C
NM_000169.3:c.941A>G (GLA) MANE Select	NP_000160.1:p.Lys314Arg
NR_164783.1:n.1020A>G (GLA)