Canonical Allele Identifier: CA413921997

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1064719
• ClinVar RCV Id: RCV001374746
• dbSNP Id: rs2147472050
• MyVariant Identifiers: chrX:g.100653433T>G (hg19) ; chrX:g.101398445T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398445T>G , CM000685.2:g.101398445T>G	GRCh38
NC_000023.10:g.100653433T>G , CM000685.1:g.100653433T>G	GRCh37
NC_000023.9:g.100540089T>G	NCBI36
NG_007119.1:g.14519A>C , LRG_672:g.14519A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*370A>C (GLA)	ENSP00000501124.2:n.*370A>C
ENST00000674127.2:c.*427A>C (GLA)	ENSP00000501044.2:n.*427A>C
ENST00000710365.1:c.999A>C (GLA)	ENSP00000518234.1:p.Lys333Asn
ENST00000218516.4:c.924A>C (GLA) MANE Select	ENSP00000218516.4:p.Lys308Asn
ENST00000466414.2:n.1060A>C (GLA)
ENST00000468823.2:n.2076A>C (GLA)
ENST00000479445.2:n.1538A>C (GLA)
ENST00000480513.6:c.*232A>C (GLA)	ENSP00000497055.1:n.*232A>C
ENST00000486121.6:c.969A>C (GLA)
ENST00000649178.1:c.1047A>C (GLA)	ENSP00000498186.1:p.Lys349Asn
ENST00000674127.1:c.1024A>C (GLA)	ENSP00000501044.1:n.1024A>C
ENST00000674142.1:n.1228A>C (GLA)
ENST00000674634.2:c.924A>C (GLA)	ENSP00000502629.2:p.Lys308Asn
ENST00000675592.1:c.801+340A>C (GLA)	ENSP00000502239.1:n.801+340A>C
ENST00000675799.1:c.*449A>C (GLA)	ENSP00000502661.1:n.*449A>C
ENST00000675968.1:n.3795A>C (GLA)
ENST00000676156.1:c.888A>C (GLA)	ENSP00000501730.1:p.Lys296Asn
ENST00000676372.1:c.990A>C (GLA)	ENSP00000502805.1:n.990A>C
ENST00000218516.3:c.924A>C (GLA)	ENSP00000218516.3:p.Lys308Asn
ENST00000409170.3:c.300+2988T>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2988T>G
ENST00000409338.5:c.177+6623T>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6623T>G
ENST00000466414.1:n.250A>C (GLA)
ENST00000493905.6:c.*312A>C (GLA)	ENSP00000476935.1:n.*312A>C
NM_000169.2:c.924A>C , LRG_672t1:c.924A>C (GLA)	NP_000160.1:p.Lys308Asn
NM_001199973.1:c.408+2988T>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2988T>G
NM_001199974.1:c.285+6623T>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6623T>G
XR_938397.1:n.1009A>C (GLA)
XR_938397.2:n.1030A>C (GLA)
NM_001199973.2:c.300+2988T>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2988T>G
NM_001199974.2:c.177+6623T>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6623T>G
NM_000169.3:c.924A>C (GLA) MANE Select	NP_000160.1:p.Lys308Asn
NR_164783.1:n.1003A>C (GLA)