Canonical Allele Identifier: CA413924297

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653835A>C (hg19) ; chrX:g.101398847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398847A>C , CM000685.2:g.101398847A>C	GRCh38
NC_000023.10:g.100653835A>C , CM000685.1:g.100653835A>C	GRCh37
NC_000023.9:g.100540491A>C	NCBI36
NG_007119.1:g.14117T>G , LRG_672:g.14117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*185T>G (GLA)	ENSP00000501124.2:n.*185T>G
ENST00000674127.2:c.*242T>G (GLA)	ENSP00000501044.2:n.*242T>G
ENST00000710365.1:c.814T>G (GLA)	ENSP00000518234.1:p.Ser272Ala
ENST00000218516.4:c.739T>G (GLA) MANE Select	ENSP00000218516.4:p.Ser247Ala
ENST00000466414.2:n.658T>G (GLA)
ENST00000468823.2:n.1674T>G (GLA)
ENST00000479445.2:n.1136T>G (GLA)
ENST00000480513.6:c.*47T>G (GLA)	ENSP00000497055.1:n.*47T>G
ENST00000486121.6:c.784T>G (GLA)
ENST00000649178.1:c.862T>G (GLA)	ENSP00000498186.1:p.Ser288Ala
ENST00000674127.1:c.839T>G (GLA)	ENSP00000501044.1:n.839T>G
ENST00000674142.1:n.826T>G (GLA)
ENST00000674634.2:c.739T>G (GLA)	ENSP00000502629.2:p.Ser247Ala
ENST00000675592.1:c.739T>G (GLA)	ENSP00000502239.1:p.Ser247Ala
ENST00000675799.1:c.*47T>G (GLA)	ENSP00000502661.1:n.*47T>G
ENST00000675968.1:n.3393T>G (GLA)
ENST00000676156.1:c.703T>G (GLA)	ENSP00000501730.1:p.Ser235Ala
ENST00000676372.1:c.739T>G (GLA)	ENSP00000502805.1:p.Ser247Ala
ENST00000218516.3:c.739T>G (GLA)	ENSP00000218516.3:p.Ser247Ala
ENST00000409170.3:c.300+3390A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3390A>C
ENST00000409338.5:c.177+7025A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7025A>C
ENST00000468823.1:n.288T>G (GLA)
ENST00000480513.5:n.577T>G (GLA)
ENST00000493905.6:c.*127T>G (GLA)	ENSP00000476935.1:n.*127T>G
NM_000169.2:c.739T>G , LRG_672t1:c.739T>G (GLA)	NP_000160.1:p.Ser247Ala
NM_001199973.1:c.408+3390A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3390A>C
NM_001199974.1:c.285+7025A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7025A>C
XR_938397.1:n.824T>G (GLA)
XR_938397.2:n.845T>G (GLA)
NM_001199973.2:c.300+3390A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3390A>C
NM_001199974.2:c.177+7025A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7025A>C
NM_000169.3:c.739T>G (GLA) MANE Select	NP_000160.1:p.Ser247Ala
NR_164783.1:n.818T>G (GLA)