Canonical Allele Identifier: CA413927508

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 3069626
• ClinVar RCV Id: RCV004008170
• MyVariant Identifiers: chrX:g.100655698C>A (hg19) ; chrX:g.101400710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400710C>A , CM000685.2:g.101400710C>A	GRCh38
NC_000023.10:g.100655698C>A , CM000685.1:g.100655698C>A	GRCh37
NC_000023.9:g.100542354C>A	NCBI36
NG_007119.1:g.12254G>T , LRG_672:g.12254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*41G>T (GLA)	ENSP00000501124.2:n.*41G>T
ENST00000674127.2:c.*41G>T (GLA)	ENSP00000501044.2:n.*41G>T
ENST00000710365.1:c.670G>T (GLA)	ENSP00000518234.1:p.Val224Leu
ENST00000218516.4:c.595G>T (GLA) MANE Select	ENSP00000218516.4:p.Val199Leu
ENST00000466414.2:n.514G>T (GLA)
ENST00000468823.2:n.1530G>T (GLA)
ENST00000479445.2:n.992G>T (GLA)
ENST00000480513.6:c.547+922G>T (GLA)	ENSP00000497055.1:n.547+922G>T
ENST00000486121.6:c.640G>T (GLA)
ENST00000649178.1:c.718G>T (GLA)	ENSP00000498186.1:p.Val240Leu
ENST00000674127.1:c.638G>T (GLA)	ENSP00000501044.1:n.638G>T
ENST00000674142.1:n.682G>T (GLA)
ENST00000674634.2:c.595G>T (GLA)	ENSP00000502629.2:p.Val199Leu
ENST00000675592.1:c.595G>T (GLA)	ENSP00000502239.1:p.Val199Leu
ENST00000675799.1:c.547+922G>T (GLA)	ENSP00000502661.1:n.547+922G>T
ENST00000675968.1:n.1530G>T (GLA)
ENST00000676156.1:c.559G>T (GLA)	ENSP00000501730.1:p.Val187Leu
ENST00000676372.1:c.595G>T (GLA)	ENSP00000502805.1:p.Val199Leu
ENST00000218516.3:c.595G>T (GLA)	ENSP00000218516.3:p.Val199Leu
ENST00000409170.3:c.300+5253C>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5253C>A
ENST00000409338.5:c.177+8888C>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8888C>A
ENST00000468823.1:n.144G>T (GLA)
ENST00000480513.5:n.477+922G>T (GLA)
ENST00000486121.5:n.640G>T (GLA)
ENST00000493905.6:c.595G>T (GLA)	ENSP00000476935.1:p.Val199Leu
NM_000169.2:c.595G>T , LRG_672t1:c.595G>T (GLA)	NP_000160.1:p.Val199Leu
NM_001199973.1:c.408+5253C>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5253C>A
NM_001199974.1:c.285+8888C>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8888C>A
XR_938397.1:n.623G>T (GLA)
XR_938397.2:n.644G>T (GLA)
NM_001199973.2:c.300+5253C>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5253C>A
NM_001199974.2:c.177+8888C>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8888C>A
NM_000169.3:c.595G>T (GLA) MANE Select	NP_000160.1:p.Val199Leu
NR_164783.1:n.617G>T (GLA)