Canonical Allele Identifier: CA029506

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs782509013
• ExAC: X:100653008 C / G
• gnomAD v2: X-100653008-C-G
• gnomAD v4: X-101398020-C-G
• MyVariant Identifiers: chrX:g.100653008C>G (hg19) ; chrX:g.101398020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398020C>G , CM000685.2:g.101398020C>G	GRCh38
NC_000023.10:g.100653008C>G , CM000685.1:g.100653008C>G	GRCh37
NC_000023.9:g.100539664C>G	NCBI36
NG_007119.1:g.14944G>C , LRG_672:g.14944G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*525G>C (GLA)	ENSP00000501124.2:n.*525G>C
ENST00000674127.2:c.*582G>C (GLA)	ENSP00000501044.2:n.*582G>C
ENST00000710365.1:c.1154G>C (GLA)	ENSP00000518234.1:p.Gly385Ala
ENST00000218516.4:c.1079G>C (GLA) MANE Select	ENSP00000218516.4:p.Gly360Ala
ENST00000466414.2:n.1215G>C (GLA)
ENST00000468823.2:n.2501G>C (GLA)
ENST00000479445.2:n.1693G>C (GLA)
ENST00000480513.6:c.*387G>C (GLA)	ENSP00000497055.1:n.*387G>C
ENST00000486121.6:c.1124G>C (GLA)
ENST00000649178.1:c.1202G>C (GLA)	ENSP00000498186.1:p.Gly401Ala
ENST00000674127.1:c.1179G>C (GLA)	ENSP00000501044.1:n.1179G>C
ENST00000674142.1:n.1383G>C (GLA)
ENST00000675592.1:c.881G>C (GLA)	ENSP00000502239.1:p.Gly294Ala
ENST00000675799.1:c.*604G>C (GLA)	ENSP00000502661.1:n.*604G>C
ENST00000675968.1:n.3950G>C (GLA)
ENST00000676156.1:c.1043G>C (GLA)	ENSP00000501730.1:p.Gly348Ala
ENST00000676372.1:c.1145G>C (GLA)	ENSP00000502805.1:n.1145G>C
ENST00000218516.3:c.1079G>C (GLA)	ENSP00000218516.3:p.Gly360Ala
ENST00000409170.3:c.300+2563C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2563C>G
ENST00000409338.5:c.177+6198C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6198C>G
ENST00000466414.1:n.405G>C (GLA)
ENST00000493905.6:c.*467G>C (GLA)	ENSP00000476935.1:n.*467G>C
NM_000169.2:c.1079G>C , LRG_672t1:c.1079G>C (GLA)	NP_000160.1:p.Gly360Ala
NM_001199973.1:c.408+2563C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2563C>G
NM_001199974.1:c.285+6198C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6198C>G
XR_938397.1:n.1164G>C (GLA)
XR_938397.2:n.1185G>C (GLA)
NM_001199973.2:c.300+2563C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2563C>G
NM_001199974.2:c.177+6198C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6198C>G
NM_000169.3:c.1079G>C (GLA) MANE Select	NP_000160.1:p.Gly360Ala
NR_164783.1:n.1158G>C (GLA)