Canonical Allele Identifier: CA413919853

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652911C>G (hg19) ; chrX:g.101397923C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397923C>G , CM000685.2:g.101397923C>G	GRCh38
NC_000023.10:g.100652911C>G , CM000685.1:g.100652911C>G	GRCh37
NC_000023.9:g.100539567C>G	NCBI36
NG_007119.1:g.15041G>C , LRG_672:g.15041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*679G>C (GLA)	ENSP00000501044.2:n.*679G>C
ENST00000710365.1:c.1251G>C (GLA)	ENSP00000518234.1:p.Arg417Ser
ENST00000218516.4:c.1176G>C (GLA) MANE Select	ENSP00000218516.4:p.Arg392Ser
ENST00000466414.2:n.1312G>C (GLA)
ENST00000468823.2:n.2598G>C (GLA)
ENST00000479445.2:n.1790G>C (GLA)
ENST00000649178.1:c.1299G>C (GLA)	ENSP00000498186.1:p.Arg433Ser
ENST00000674127.1:c.1276G>C (GLA)	ENSP00000501044.1:n.1276G>C
ENST00000674142.1:n.1421+59G>C (GLA)
ENST00000675592.1:c.978G>C (GLA)	ENSP00000502239.1:p.Arg326Ser
ENST00000675799.1:c.*701G>C (GLA)	ENSP00000502661.1:n.*701G>C
ENST00000675968.1:n.4047G>C (GLA)
ENST00000676156.1:c.1140G>C (GLA)	ENSP00000501730.1:p.Arg380Ser
ENST00000676372.1:c.1242G>C (GLA)	ENSP00000502805.1:n.1242G>C
ENST00000218516.3:c.1176G>C (GLA)	ENSP00000218516.3:p.Arg392Ser
ENST00000409170.3:c.300+2466C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2466C>G
ENST00000409338.5:c.177+6101C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6101C>G
ENST00000466414.1:n.502G>C (GLA)
ENST00000493905.6:c.*564G>C (GLA)	ENSP00000476935.1:n.*564G>C
NM_000169.2:c.1176G>C , LRG_672t1:c.1176G>C (GLA)	NP_000160.1:p.Arg392Ser
NM_001199973.1:c.408+2466C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2466C>G
NM_001199974.1:c.285+6101C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6101C>G
XR_938397.1:n.1261G>C (GLA)
XR_938397.2:n.1282G>C (GLA)
NM_001199973.2:c.300+2466C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2466C>G
NM_001199974.2:c.177+6101C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6101C>G
NM_000169.3:c.1176G>C (GLA) MANE Select	NP_000160.1:p.Arg392Ser
NR_164783.1:n.1255G>C (GLA)