Canonical Allele Identifier: CA352505

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312414
• MyVariant Identifiers: chrX:g.100653709T>C (hg19) ; chrX:g.101398721T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398721T>C , CM000685.2:g.101398721T>C	GRCh38
NC_000023.10:g.100653709T>C , CM000685.1:g.100653709T>C	GRCh37
NC_000023.9:g.100540365T>C	NCBI36
NG_007119.1:g.14243A>G , LRG_672:g.14243A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*247+64A>G (GLA)	ENSP00000501124.2:n.*247+64A>G
ENST00000674127.2:c.*304+64A>G (GLA)	ENSP00000501044.2:n.*304+64A>G
ENST00000710365.1:c.876+64A>G (GLA)	ENSP00000518234.1:n.876+64A>G
ENST00000218516.4:c.801+64A>G (GLA) MANE Select	ENSP00000218516.4:n.801+64A>G
ENST00000466414.2:n.784A>G (GLA)
ENST00000468823.2:n.1800A>G (GLA)
ENST00000479445.2:n.1262A>G (GLA)
ENST00000480513.6:c.*109+64A>G (GLA)	ENSP00000497055.1:n.*109+64A>G
ENST00000486121.6:c.846+64A>G (GLA)
ENST00000649178.1:c.924+64A>G (GLA)	ENSP00000498186.1:n.924+64A>G
ENST00000674127.1:c.901+64A>G (GLA)	ENSP00000501044.1:n.901+64A>G
ENST00000674142.1:n.952A>G (GLA)
ENST00000674634.2:c.801+64A>G (GLA)	ENSP00000502629.2:n.801+64A>G
ENST00000675592.1:c.801+64A>G (GLA)	ENSP00000502239.1:n.801+64A>G
ENST00000675799.1:c.*173A>G (GLA)	ENSP00000502661.1:n.*173A>G
ENST00000675968.1:n.3519A>G (GLA)
ENST00000676156.1:c.765+64A>G (GLA)	ENSP00000501730.1:n.765+64A>G
ENST00000676372.1:c.865A>G (GLA)	ENSP00000502805.1:n.865A>G
ENST00000218516.3:c.801+64A>G (GLA)	ENSP00000218516.3:n.801+64A>G
ENST00000409170.3:c.300+3264T>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3264T>C
ENST00000409338.5:c.177+6899T>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6899T>C
ENST00000468823.1:n.414A>G (GLA)
ENST00000493905.6:c.*189+64A>G (GLA)	ENSP00000476935.1:n.*189+64A>G
NM_000169.2:c.801+64A>G , LRG_672t1:c.801+64A>G (GLA)	NP_000160.1:n.801+64A>G
NM_001199973.1:c.408+3264T>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3264T>C
NM_001199974.1:c.285+6899T>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6899T>C
XR_938397.1:n.886+64A>G (GLA)
XR_938397.2:n.907+64A>G (GLA)
NM_001199973.2:c.300+3264T>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3264T>C
NM_001199974.2:c.177+6899T>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6899T>C
NM_000169.3:c.801+64A>G (GLA) MANE Select	NP_000160.1:n.801+64A>G
NR_164783.1:n.880+64A>G (GLA)