Canonical Allele Identifier: CA517519568

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1127711
• ClinVar RCV Id: RCV001460222
• dbSNP Id: rs2147470731
• MyVariant Identifiers: chrX:g.100652926G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397938G>C , CM000685.2:g.101397938G>C	GRCh38
NC_000023.10:g.100652926G>C , CM000685.1:g.100652926G>C	GRCh37
NC_000023.9:g.100539582G>C	NCBI36
NG_007119.1:g.15026C>G , LRG_672:g.15026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*607C>G (GLA)	ENSP00000501124.2:n.*607C>G
ENST00000674127.2:c.*664C>G (GLA)	ENSP00000501044.2:n.*664C>G
ENST00000710365.1:c.1236C>G (GLA)	ENSP00000518234.1:p.Leu412=
ENST00000218516.4:c.1161C>G (GLA) MANE Select	ENSP00000218516.4:p.Leu387=
ENST00000466414.2:n.1297C>G (GLA)
ENST00000468823.2:n.2583C>G (GLA)
ENST00000479445.2:n.1775C>G (GLA)
ENST00000480513.6:c.*469C>G (GLA)	ENSP00000497055.1:n.*469C>G
ENST00000486121.6:c.1206C>G (GLA)
ENST00000649178.1:c.1284C>G (GLA)	ENSP00000498186.1:p.Leu428=
ENST00000674127.1:c.1261C>G (GLA)	ENSP00000501044.1:n.1261C>G
ENST00000674142.1:n.1421+44C>G (GLA)
ENST00000675592.1:c.963C>G (GLA)	ENSP00000502239.1:p.Leu321=
ENST00000675799.1:c.*686C>G (GLA)	ENSP00000502661.1:n.*686C>G
ENST00000675968.1:n.4032C>G (GLA)
ENST00000676156.1:c.1125C>G (GLA)	ENSP00000501730.1:p.Leu375=
ENST00000676372.1:c.1227C>G (GLA)	ENSP00000502805.1:n.1227C>G
ENST00000218516.3:c.1161C>G (GLA)	ENSP00000218516.3:p.Leu387=
ENST00000409170.3:c.300+2481G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2481G>C
ENST00000409338.5:c.177+6116G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6116G>C
ENST00000466414.1:n.487C>G (GLA)
ENST00000493905.6:c.*549C>G (GLA)	ENSP00000476935.1:n.*549C>G
NM_000169.2:c.1161C>G , LRG_672t1:c.1161C>G (GLA)	NP_000160.1:p.Leu387=
NM_001199973.1:c.408+2481G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2481G>C
NM_001199974.1:c.285+6116G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6116G>C
XR_938397.1:n.1246C>G (GLA)
XR_938397.2:n.1267C>G (GLA)
NM_001199973.2:c.300+2481G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2481G>C
NM_001199974.2:c.177+6116G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6116G>C
NM_000169.3:c.1161C>G (GLA) MANE Select	NP_000160.1:p.Leu387=
NR_164783.1:n.1240C>G (GLA)