Canonical Allele Identifier: CA022025

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 167139
• ClinVar RCV Id: RCV000153319 ; RCV002516076
• dbSNP Id: rs727503948
• MyVariant Identifiers: chrX:g.100653844C>T (hg19) ; chrX:g.101398856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398856C>T , CM000685.2:g.101398856C>T	GRCh38
NC_000023.10:g.100653844C>T , CM000685.1:g.100653844C>T	GRCh37
NC_000023.9:g.100540500C>T	NCBI36
NG_007119.1:g.14108G>A , LRG_672:g.14108G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*176G>A (GLA)	ENSP00000501124.2:n.*176G>A
ENST00000674127.2:c.*233G>A (GLA)	ENSP00000501044.2:n.*233G>A
ENST00000710365.1:c.805G>A (GLA)	ENSP00000518234.1:p.Asp269Asn
ENST00000218516.4:c.730G>A (GLA) MANE Select	ENSP00000218516.4:p.Asp244Asn
ENST00000466414.2:n.649G>A (GLA)
ENST00000468823.2:n.1665G>A (GLA)
ENST00000479445.2:n.1127G>A (GLA)
ENST00000480513.6:c.*38G>A (GLA)	ENSP00000497055.1:n.*38G>A
ENST00000486121.6:c.775G>A (GLA)
ENST00000649178.1:c.853G>A (GLA)	ENSP00000498186.1:p.Asp285Asn
ENST00000674127.1:c.830G>A (GLA)	ENSP00000501044.1:n.830G>A
ENST00000674142.1:n.817G>A (GLA)
ENST00000674634.2:c.730G>A (GLA)	ENSP00000502629.2:p.Asp244Asn
ENST00000675592.1:c.730G>A (GLA)	ENSP00000502239.1:p.Asp244Asn
ENST00000675799.1:c.*38G>A (GLA)	ENSP00000502661.1:n.*38G>A
ENST00000675968.1:n.3384G>A (GLA)
ENST00000676156.1:c.694G>A (GLA)	ENSP00000501730.1:p.Asp232Asn
ENST00000676372.1:c.730G>A (GLA)	ENSP00000502805.1:p.Asp244Asn
ENST00000218516.3:c.730G>A (GLA)	ENSP00000218516.3:p.Asp244Asn
ENST00000409170.3:c.300+3399C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3399C>T
ENST00000409338.5:c.177+7034C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7034C>T
ENST00000468823.1:n.279G>A (GLA)
ENST00000480513.5:n.568G>A (GLA)
ENST00000493905.6:c.*118G>A (GLA)	ENSP00000476935.1:n.*118G>A
NM_000169.2:c.730G>A , LRG_672t1:c.730G>A (GLA)	NP_000160.1:p.Asp244Asn
NM_001199973.1:c.408+3399C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3399C>T
NM_001199974.1:c.285+7034C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7034C>T
XR_938397.1:n.815G>A (GLA)
XR_938397.2:n.836G>A (GLA)
NM_001199973.2:c.300+3399C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3399C>T
NM_001199974.2:c.177+7034C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7034C>T
NM_000169.3:c.730G>A (GLA) MANE Select	NP_000160.1:p.Asp244Asn
NR_164783.1:n.809G>A (GLA)