Canonical Allele Identifier: CA413921990

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653432C>A (hg19) ; chrX:g.101398444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398444C>A , CM000685.2:g.101398444C>A	GRCh38
NC_000023.10:g.100653432C>A , CM000685.1:g.100653432C>A	GRCh37
NC_000023.9:g.100540088C>A	NCBI36
NG_007119.1:g.14520G>T , LRG_672:g.14520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*371G>T (GLA)	ENSP00000501124.2:n.*371G>T
ENST00000674127.2:c.*428G>T (GLA)	ENSP00000501044.2:n.*428G>T
ENST00000710365.1:c.1000G>T (GLA)	ENSP00000518234.1:p.Ala334Ser
ENST00000218516.4:c.925G>T (GLA) MANE Select	ENSP00000218516.4:p.Ala309Ser
ENST00000466414.2:n.1061G>T (GLA)
ENST00000468823.2:n.2077G>T (GLA)
ENST00000479445.2:n.1539G>T (GLA)
ENST00000480513.6:c.*233G>T (GLA)	ENSP00000497055.1:n.*233G>T
ENST00000486121.6:c.970G>T (GLA)
ENST00000649178.1:c.1048G>T (GLA)	ENSP00000498186.1:p.Ala350Ser
ENST00000674127.1:c.1025G>T (GLA)	ENSP00000501044.1:n.1025G>T
ENST00000674142.1:n.1229G>T (GLA)
ENST00000674634.2:c.925G>T (GLA)	ENSP00000502629.2:p.Ala309Ser
ENST00000675592.1:c.801+341G>T (GLA)	ENSP00000502239.1:n.801+341G>T
ENST00000675799.1:c.*450G>T (GLA)	ENSP00000502661.1:n.*450G>T
ENST00000675968.1:n.3796G>T (GLA)
ENST00000676156.1:c.889G>T (GLA)	ENSP00000501730.1:p.Ala297Ser
ENST00000676372.1:c.991G>T (GLA)	ENSP00000502805.1:n.991G>T
ENST00000218516.3:c.925G>T (GLA)	ENSP00000218516.3:p.Ala309Ser
ENST00000409170.3:c.300+2987C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2987C>A
ENST00000409338.5:c.177+6622C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6622C>A
ENST00000466414.1:n.251G>T (GLA)
ENST00000493905.6:c.*313G>T (GLA)	ENSP00000476935.1:n.*313G>T
NM_000169.2:c.925G>T , LRG_672t1:c.925G>T (GLA)	NP_000160.1:p.Ala309Ser
NM_001199973.1:c.408+2987C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2987C>A
NM_001199974.1:c.285+6622C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6622C>A
XR_938397.1:n.1010G>T (GLA)
XR_938397.2:n.1031G>T (GLA)
NM_001199973.2:c.300+2987C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2987C>A
NM_001199974.2:c.177+6622C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6622C>A
NM_000169.3:c.925G>T (GLA) MANE Select	NP_000160.1:p.Ala309Ser
NR_164783.1:n.1004G>T (GLA)