Canonical Allele Identifier: CA413924394

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653841A>G (hg19) ; chrX:g.101398853A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398853A>G , CM000685.2:g.101398853A>G	GRCh38
NC_000023.10:g.100653841A>G , CM000685.1:g.100653841A>G	GRCh37
NC_000023.9:g.100540497A>G	NCBI36
NG_007119.1:g.14111T>C , LRG_672:g.14111T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*179T>C (GLA)	ENSP00000501124.2:n.*179T>C
ENST00000674127.2:c.*236T>C (GLA)	ENSP00000501044.2:n.*236T>C
ENST00000710365.1:c.808T>C (GLA)	ENSP00000518234.1:p.Trp270Arg
ENST00000218516.4:c.733T>C (GLA) MANE Select	ENSP00000218516.4:p.Trp245Arg
ENST00000466414.2:n.652T>C (GLA)
ENST00000468823.2:n.1668T>C (GLA)
ENST00000479445.2:n.1130T>C (GLA)
ENST00000480513.6:c.*41T>C (GLA)	ENSP00000497055.1:n.*41T>C
ENST00000486121.6:c.778T>C (GLA)
ENST00000649178.1:c.856T>C (GLA)	ENSP00000498186.1:p.Trp286Arg
ENST00000674127.1:c.833T>C (GLA)	ENSP00000501044.1:n.833T>C
ENST00000674142.1:n.820T>C (GLA)
ENST00000674634.2:c.733T>C (GLA)	ENSP00000502629.2:p.Trp245Arg
ENST00000675592.1:c.733T>C (GLA)	ENSP00000502239.1:p.Trp245Arg
ENST00000675799.1:c.*41T>C (GLA)	ENSP00000502661.1:n.*41T>C
ENST00000675968.1:n.3387T>C (GLA)
ENST00000676156.1:c.697T>C (GLA)	ENSP00000501730.1:p.Trp233Arg
ENST00000676372.1:c.733T>C (GLA)	ENSP00000502805.1:p.Trp245Arg
ENST00000218516.3:c.733T>C (GLA)	ENSP00000218516.3:p.Trp245Arg
ENST00000409170.3:c.300+3396A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3396A>G
ENST00000409338.5:c.177+7031A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7031A>G
ENST00000468823.1:n.282T>C (GLA)
ENST00000480513.5:n.571T>C (GLA)
ENST00000493905.6:c.*121T>C (GLA)	ENSP00000476935.1:n.*121T>C
NM_000169.2:c.733T>C , LRG_672t1:c.733T>C (GLA)	NP_000160.1:p.Trp245Arg
NM_001199973.1:c.408+3396A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3396A>G
NM_001199974.1:c.285+7031A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7031A>G
XR_938397.1:n.818T>C (GLA)
XR_938397.2:n.839T>C (GLA)
NM_001199973.2:c.300+3396A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3396A>G
NM_001199974.2:c.177+7031A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7031A>G
NM_000169.3:c.733T>C (GLA) MANE Select	NP_000160.1:p.Trp245Arg
NR_164783.1:n.812T>C (GLA)