Canonical Allele Identifier: CA352872

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312342
• MyVariant Identifiers: chrX:g.100655733A>C (hg19) ; chrX:g.101400745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400745A>C , CM000685.2:g.101400745A>C	GRCh38
NC_000023.10:g.100655733A>C , CM000685.1:g.100655733A>C	GRCh37
NC_000023.9:g.100542389A>C	NCBI36
NG_007119.1:g.12219T>G , LRG_672:g.12219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*6T>G (GLA)	ENSP00000501124.2:n.*6T>G
ENST00000674127.2:c.*6T>G (GLA)	ENSP00000501044.2:n.*6T>G
ENST00000710365.1:c.635T>G (GLA)	ENSP00000518234.1:p.Met212Arg
ENST00000218516.4:c.560T>G (GLA) MANE Select	ENSP00000218516.4:p.Met187Arg
ENST00000466414.2:n.479T>G (GLA)
ENST00000468823.2:n.1495T>G (GLA)
ENST00000479445.2:n.957T>G (GLA)
ENST00000480513.6:c.547+887T>G (GLA)	ENSP00000497055.1:n.547+887T>G
ENST00000486121.6:c.605T>G (GLA)
ENST00000649178.1:c.683T>G (GLA)	ENSP00000498186.1:p.Met228Arg
ENST00000674127.1:c.603T>G (GLA)	ENSP00000501044.1:n.603T>G
ENST00000674142.1:n.647T>G (GLA)
ENST00000674634.2:c.560T>G (GLA)	ENSP00000502629.2:p.Met187Arg
ENST00000675592.1:c.560T>G (GLA)	ENSP00000502239.1:p.Met187Arg
ENST00000675799.1:c.547+887T>G (GLA)	ENSP00000502661.1:n.547+887T>G
ENST00000675968.1:n.1495T>G (GLA)
ENST00000676156.1:c.524T>G (GLA)	ENSP00000501730.1:p.Met175Arg
ENST00000676372.1:c.560T>G (GLA)	ENSP00000502805.1:p.Met187Arg
ENST00000218516.3:c.560T>G (GLA)	ENSP00000218516.3:p.Met187Arg
ENST00000409170.3:c.300+5288A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5288A>C
ENST00000409338.5:c.177+8923A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8923A>C
ENST00000468823.1:n.109T>G (GLA)
ENST00000480513.5:n.477+887T>G (GLA)
ENST00000486121.5:n.605T>G (GLA)
ENST00000493905.6:c.560T>G (GLA)	ENSP00000476935.1:p.Met187Arg
NM_000169.2:c.560T>G , LRG_672t1:c.560T>G (GLA)	NP_000160.1:p.Met187Arg
NM_001199973.1:c.408+5288A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5288A>C
NM_001199974.1:c.285+8923A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8923A>C
XR_938397.1:n.588T>G (GLA)
XR_938397.2:n.609T>G (GLA)
NM_001199973.2:c.300+5288A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5288A>C
NM_001199974.2:c.177+8923A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8923A>C
NM_000169.3:c.560T>G (GLA) MANE Select	NP_000160.1:p.Met187Arg
NR_164783.1:n.582T>G (GLA)