Canonical Allele Identifier: CA022045

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 92566
• ClinVar RCV Id: RCV000078297 ; RCV000780290
• dbSNP Id: rs398123221
• MyVariant Identifiers: chrX:g.100653826G>A (hg19) ; chrX:g.101398838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398838G>A , CM000685.2:g.101398838G>A	GRCh38
NC_000023.10:g.100653826G>A , CM000685.1:g.100653826G>A	GRCh37
NC_000023.9:g.100540482G>A	NCBI36
NG_007119.1:g.14126C>T , LRG_672:g.14126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*194C>T (GLA)	ENSP00000501124.2:n.*194C>T
ENST00000674127.2:c.*251C>T (GLA)	ENSP00000501044.2:n.*251C>T
ENST00000710365.1:c.823C>T (GLA)	ENSP00000518234.1:p.Gln275Ter
ENST00000218516.4:c.748C>T (GLA) MANE Select	ENSP00000218516.4:p.Gln250Ter
ENST00000466414.2:n.667C>T (GLA)
ENST00000468823.2:n.1683C>T (GLA)
ENST00000479445.2:n.1145C>T (GLA)
ENST00000480513.6:c.*56C>T (GLA)	ENSP00000497055.1:n.*56C>T
ENST00000486121.6:c.793C>T (GLA)
ENST00000649178.1:c.871C>T (GLA)	ENSP00000498186.1:p.Gln291Ter
ENST00000674127.1:c.848C>T (GLA)	ENSP00000501044.1:n.848C>T
ENST00000674142.1:n.835C>T (GLA)
ENST00000674634.2:c.748C>T (GLA)	ENSP00000502629.2:p.Gln250Ter
ENST00000675592.1:c.748C>T (GLA)	ENSP00000502239.1:p.Gln250Ter
ENST00000675799.1:c.*56C>T (GLA)	ENSP00000502661.1:n.*56C>T
ENST00000675968.1:n.3402C>T (GLA)
ENST00000676156.1:c.712C>T (GLA)	ENSP00000501730.1:p.Gln238Ter
ENST00000676372.1:c.748C>T (GLA)	ENSP00000502805.1:p.Gln250Ter
ENST00000218516.3:c.748C>T (GLA)	ENSP00000218516.3:p.Gln250Ter
ENST00000409170.3:c.300+3381G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3381G>A
ENST00000409338.5:c.177+7016G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7016G>A
ENST00000468823.1:n.297C>T (GLA)
ENST00000480513.5:n.586C>T (GLA)
ENST00000493905.6:c.*136C>T (GLA)	ENSP00000476935.1:n.*136C>T
NM_000169.2:c.748C>T , LRG_672t1:c.748C>T (GLA)	NP_000160.1:p.Gln250Ter
NM_001199973.1:c.408+3381G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3381G>A
NM_001199974.1:c.285+7016G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7016G>A
XR_938397.1:n.833C>T (GLA)
XR_938397.2:n.854C>T (GLA)
NM_001199973.2:c.300+3381G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3381G>A
NM_001199974.2:c.177+7016G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7016G>A
NM_000169.3:c.748C>T (GLA) MANE Select	NP_000160.1:p.Gln250Ter
NR_164783.1:n.827C>T (GLA)