Canonical Allele Identifier: CA413920985

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653028C>G (hg19) ; chrX:g.101398040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398040C>G , CM000685.2:g.101398040C>G	GRCh38
NC_000023.10:g.100653028C>G , CM000685.1:g.100653028C>G	GRCh37
NC_000023.9:g.100539684C>G	NCBI36
NG_007119.1:g.14924G>C , LRG_672:g.14924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*505G>C (GLA)	ENSP00000501124.2:n.*505G>C
ENST00000674127.2:c.*562G>C (GLA)	ENSP00000501044.2:n.*562G>C
ENST00000710365.1:c.1134G>C (GLA)	ENSP00000518234.1:p.Met378Ile
ENST00000218516.4:c.1059G>C (GLA) MANE Select	ENSP00000218516.4:p.Met353Ile
ENST00000466414.2:n.1195G>C (GLA)
ENST00000468823.2:n.2481G>C (GLA)
ENST00000479445.2:n.1673G>C (GLA)
ENST00000480513.6:c.*367G>C (GLA)	ENSP00000497055.1:n.*367G>C
ENST00000486121.6:c.1104G>C (GLA)
ENST00000649178.1:c.1182G>C (GLA)	ENSP00000498186.1:p.Met394Ile
ENST00000674127.1:c.1159G>C (GLA)	ENSP00000501044.1:n.1159G>C
ENST00000674142.1:n.1363G>C (GLA)
ENST00000675592.1:c.861G>C (GLA)	ENSP00000502239.1:p.Met287Ile
ENST00000675799.1:c.*584G>C (GLA)	ENSP00000502661.1:n.*584G>C
ENST00000675968.1:n.3930G>C (GLA)
ENST00000676156.1:c.1023G>C (GLA)	ENSP00000501730.1:p.Met341Ile
ENST00000676372.1:c.1125G>C (GLA)	ENSP00000502805.1:n.1125G>C
ENST00000218516.3:c.1059G>C (GLA)	ENSP00000218516.3:p.Met353Ile
ENST00000409170.3:c.300+2583C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2583C>G
ENST00000409338.5:c.177+6218C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6218C>G
ENST00000466414.1:n.385G>C (GLA)
ENST00000493905.6:c.*447G>C (GLA)	ENSP00000476935.1:n.*447G>C
NM_000169.2:c.1059G>C , LRG_672t1:c.1059G>C (GLA)	NP_000160.1:p.Met353Ile
NM_001199973.1:c.408+2583C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2583C>G
NM_001199974.1:c.285+6218C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6218C>G
XR_938397.1:n.1144G>C (GLA)
XR_938397.2:n.1165G>C (GLA)
NM_001199973.2:c.300+2583C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2583C>G
NM_001199974.2:c.177+6218C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6218C>G
NM_000169.3:c.1059G>C (GLA) MANE Select	NP_000160.1:p.Met353Ile
NR_164783.1:n.1138G>C (GLA)