Canonical Allele Identifier: CA413922147

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 3073449
• ClinVar RCV Id: RCV004016455
• gnomAD v4: X-101398456-G-A
• MyVariant Identifiers: chrX:g.100653444G>A (hg19) ; chrX:g.101398456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398456G>A , CM000685.2:g.101398456G>A	GRCh38
NC_000023.10:g.100653444G>A , CM000685.1:g.100653444G>A	GRCh37
NC_000023.9:g.100540100G>A	NCBI36
NG_007119.1:g.14508C>T , LRG_672:g.14508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*359C>T (GLA)	ENSP00000501124.2:n.*359C>T
ENST00000674127.2:c.*416C>T (GLA)	ENSP00000501044.2:n.*416C>T
ENST00000710365.1:c.988C>T (GLA)	ENSP00000518234.1:p.Pro330Ser
ENST00000218516.4:c.913C>T (GLA) MANE Select	ENSP00000218516.4:p.Pro305Ser
ENST00000466414.2:n.1049C>T (GLA)
ENST00000468823.2:n.2065C>T (GLA)
ENST00000479445.2:n.1527C>T (GLA)
ENST00000480513.6:c.*221C>T (GLA)	ENSP00000497055.1:n.*221C>T
ENST00000486121.6:c.958C>T (GLA)
ENST00000649178.1:c.1036C>T (GLA)	ENSP00000498186.1:p.Pro346Ser
ENST00000674127.1:c.1013C>T (GLA)	ENSP00000501044.1:n.1013C>T
ENST00000674142.1:n.1217C>T (GLA)
ENST00000674634.2:c.913C>T (GLA)	ENSP00000502629.2:p.Pro305Ser
ENST00000675592.1:c.801+329C>T (GLA)	ENSP00000502239.1:n.801+329C>T
ENST00000675799.1:c.*438C>T (GLA)	ENSP00000502661.1:n.*438C>T
ENST00000675968.1:n.3784C>T (GLA)
ENST00000676156.1:c.877C>T (GLA)	ENSP00000501730.1:p.Pro293Ser
ENST00000676372.1:c.979C>T (GLA)	ENSP00000502805.1:n.979C>T
ENST00000218516.3:c.913C>T (GLA)	ENSP00000218516.3:p.Pro305Ser
ENST00000409170.3:c.300+2999G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2999G>A
ENST00000409338.5:c.177+6634G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6634G>A
ENST00000466414.1:n.239C>T (GLA)
ENST00000493905.6:c.*301C>T (GLA)	ENSP00000476935.1:n.*301C>T
NM_000169.2:c.913C>T , LRG_672t1:c.913C>T (GLA)	NP_000160.1:p.Pro305Ser
NM_001199973.1:c.408+2999G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2999G>A
NM_001199974.1:c.285+6634G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6634G>A
XR_938397.1:n.998C>T (GLA)
XR_938397.2:n.1019C>T (GLA)
NM_001199973.2:c.300+2999G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2999G>A
NM_001199974.2:c.177+6634G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6634G>A
NM_000169.3:c.913C>T (GLA) MANE Select	NP_000160.1:p.Pro305Ser
NR_164783.1:n.992C>T (GLA)