Canonical Allele Identifier: CA413921221

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1384869
• ClinVar RCV Id: RCV001897840
• dbSNP Id: rs2147471344
• MyVariant Identifiers: chrX:g.100653072C>G (hg19) ; chrX:g.101398084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398084C>G , CM000685.2:g.101398084C>G	GRCh38
NC_000023.10:g.100653072C>G , CM000685.1:g.100653072C>G	GRCh37
NC_000023.9:g.100539728C>G	NCBI36
NG_007119.1:g.14880G>C , LRG_672:g.14880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*461G>C (GLA)	ENSP00000501124.2:n.*461G>C
ENST00000674127.2:c.*518G>C (GLA)	ENSP00000501044.2:n.*518G>C
ENST00000710365.1:c.1090G>C (GLA)	ENSP00000518234.1:p.Val364Leu
ENST00000218516.4:c.1015G>C (GLA) MANE Select	ENSP00000218516.4:p.Val339Leu
ENST00000466414.2:n.1151G>C (GLA)
ENST00000468823.2:n.2437G>C (GLA)
ENST00000479445.2:n.1629G>C (GLA)
ENST00000480513.6:c.*323G>C (GLA)	ENSP00000497055.1:n.*323G>C
ENST00000486121.6:c.1060G>C (GLA)
ENST00000649178.1:c.1138G>C (GLA)	ENSP00000498186.1:p.Val380Leu
ENST00000674127.1:c.1115G>C (GLA)	ENSP00000501044.1:n.1115G>C
ENST00000674142.1:n.1319G>C (GLA)
ENST00000675592.1:c.817G>C (GLA)	ENSP00000502239.1:p.Val273Leu
ENST00000675799.1:c.*540G>C (GLA)	ENSP00000502661.1:n.*540G>C
ENST00000675968.1:n.3886G>C (GLA)
ENST00000676156.1:c.979G>C (GLA)	ENSP00000501730.1:p.Val327Leu
ENST00000676372.1:c.1081G>C (GLA)	ENSP00000502805.1:n.1081G>C
ENST00000218516.3:c.1015G>C (GLA)	ENSP00000218516.3:p.Val339Leu
ENST00000409170.3:c.300+2627C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2627C>G
ENST00000409338.5:c.177+6262C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6262C>G
ENST00000466414.1:n.341G>C (GLA)
ENST00000493905.6:c.*403G>C (GLA)	ENSP00000476935.1:n.*403G>C
NM_000169.2:c.1015G>C , LRG_672t1:c.1015G>C (GLA)	NP_000160.1:p.Val339Leu
NM_001199973.1:c.408+2627C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2627C>G
NM_001199974.1:c.285+6262C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6262C>G
XR_938397.1:n.1100G>C (GLA)
XR_938397.2:n.1121G>C (GLA)
NM_001199973.2:c.300+2627C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2627C>G
NM_001199974.2:c.177+6262C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6262C>G
NM_000169.3:c.1015G>C (GLA) MANE Select	NP_000160.1:p.Val339Leu
NR_164783.1:n.1094G>C (GLA)