Canonical Allele Identifier: CA413921458

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653389G>T (hg19) ; chrX:g.101398401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398401G>T , CM000685.2:g.101398401G>T	GRCh38
NC_000023.10:g.100653389G>T , CM000685.1:g.100653389G>T	GRCh37
NC_000023.9:g.100540045G>T	NCBI36
NG_007119.1:g.14563C>A , LRG_672:g.14563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*414C>A (GLA)	ENSP00000501124.2:n.*414C>A
ENST00000674127.2:c.*471C>A (GLA)	ENSP00000501044.2:n.*471C>A
ENST00000710365.1:c.1043C>A (GLA)	ENSP00000518234.1:p.Pro348His
ENST00000218516.4:c.968C>A (GLA) MANE Select	ENSP00000218516.4:p.Pro323His
ENST00000466414.2:n.1104C>A (GLA)
ENST00000468823.2:n.2120C>A (GLA)
ENST00000479445.2:n.1582C>A (GLA)
ENST00000480513.6:c.*276C>A (GLA)	ENSP00000497055.1:n.*276C>A
ENST00000486121.6:c.1013C>A (GLA)
ENST00000649178.1:c.1091C>A (GLA)	ENSP00000498186.1:p.Pro364His
ENST00000674127.1:c.1068C>A (GLA)	ENSP00000501044.1:n.1068C>A
ENST00000674142.1:n.1272C>A (GLA)
ENST00000674634.2:c.968C>A (GLA)	ENSP00000502629.2:p.Pro323His
ENST00000675592.1:c.802-302C>A (GLA)	ENSP00000502239.1:n.802-302C>A
ENST00000675799.1:c.*493C>A (GLA)	ENSP00000502661.1:n.*493C>A
ENST00000675968.1:n.3839C>A (GLA)
ENST00000676156.1:c.932C>A (GLA)	ENSP00000501730.1:p.Pro311His
ENST00000676372.1:c.1034C>A (GLA)	ENSP00000502805.1:n.1034C>A
ENST00000218516.3:c.968C>A (GLA)	ENSP00000218516.3:p.Pro323His
ENST00000409170.3:c.300+2944G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2944G>T
ENST00000409338.5:c.177+6579G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6579G>T
ENST00000466414.1:n.294C>A (GLA)
ENST00000493905.6:c.*356C>A (GLA)	ENSP00000476935.1:n.*356C>A
NM_000169.2:c.968C>A , LRG_672t1:c.968C>A (GLA)	NP_000160.1:p.Pro323His
NM_001199973.1:c.408+2944G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2944G>T
NM_001199974.1:c.285+6579G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6579G>T
XR_938397.1:n.1053C>A (GLA)
XR_938397.2:n.1074C>A (GLA)
NM_001199973.2:c.300+2944G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2944G>T
NM_001199974.2:c.177+6579G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6579G>T
NM_000169.3:c.968C>A (GLA) MANE Select	NP_000160.1:p.Pro323His
NR_164783.1:n.1047C>A (GLA)