Canonical Allele Identifier: CA413924399

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2920257
• ClinVar RCV Id: RCV003622406
• MyVariant Identifiers: chrX:g.100653842G>C (hg19) ; chrX:g.101398854G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398854G>C , CM000685.2:g.101398854G>C	GRCh38
NC_000023.10:g.100653842G>C , CM000685.1:g.100653842G>C	GRCh37
NC_000023.9:g.100540498G>C	NCBI36
NG_007119.1:g.14110C>G , LRG_672:g.14110C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*178C>G (GLA)	ENSP00000501124.2:n.*178C>G
ENST00000674127.2:c.*235C>G (GLA)	ENSP00000501044.2:n.*235C>G
ENST00000710365.1:c.807C>G (GLA)	ENSP00000518234.1:p.Asp269Glu
ENST00000218516.4:c.732C>G (GLA) MANE Select	ENSP00000218516.4:p.Asp244Glu
ENST00000466414.2:n.651C>G (GLA)
ENST00000468823.2:n.1667C>G (GLA)
ENST00000479445.2:n.1129C>G (GLA)
ENST00000480513.6:c.*40C>G (GLA)	ENSP00000497055.1:n.*40C>G
ENST00000486121.6:c.777C>G (GLA)
ENST00000649178.1:c.855C>G (GLA)	ENSP00000498186.1:p.Asp285Glu
ENST00000674127.1:c.832C>G (GLA)	ENSP00000501044.1:n.832C>G
ENST00000674142.1:n.819C>G (GLA)
ENST00000674634.2:c.732C>G (GLA)	ENSP00000502629.2:p.Asp244Glu
ENST00000675592.1:c.732C>G (GLA)	ENSP00000502239.1:p.Asp244Glu
ENST00000675799.1:c.*40C>G (GLA)	ENSP00000502661.1:n.*40C>G
ENST00000675968.1:n.3386C>G (GLA)
ENST00000676156.1:c.696C>G (GLA)	ENSP00000501730.1:p.Asp232Glu
ENST00000676372.1:c.732C>G (GLA)	ENSP00000502805.1:p.Asp244Glu
ENST00000218516.3:c.732C>G (GLA)	ENSP00000218516.3:p.Asp244Glu
ENST00000409170.3:c.300+3397G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3397G>C
ENST00000409338.5:c.177+7032G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7032G>C
ENST00000468823.1:n.281C>G (GLA)
ENST00000480513.5:n.570C>G (GLA)
ENST00000493905.6:c.*120C>G (GLA)	ENSP00000476935.1:n.*120C>G
NM_000169.2:c.732C>G , LRG_672t1:c.732C>G (GLA)	NP_000160.1:p.Asp244Glu
NM_001199973.1:c.408+3397G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3397G>C
NM_001199974.1:c.285+7032G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7032G>C
XR_938397.1:n.817C>G (GLA)
XR_938397.2:n.838C>G (GLA)
NM_001199973.2:c.300+3397G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3397G>C
NM_001199974.2:c.177+7032G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7032G>C
NM_000169.3:c.732C>G (GLA) MANE Select	NP_000160.1:p.Asp244Glu
NR_164783.1:n.811C>G (GLA)