Canonical Allele Identifier: CA413920759

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101398014-G-T
• MyVariant Identifiers: chrX:g.100653002G>T (hg19) ; chrX:g.101398014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398014G>T , CM000685.2:g.101398014G>T	GRCh38
NC_000023.10:g.100653002G>T , CM000685.1:g.100653002G>T	GRCh37
NC_000023.9:g.100539658G>T	NCBI36
NG_007119.1:g.14950C>A , LRG_672:g.14950C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*531C>A (GLA)	ENSP00000501124.2:n.*531C>A
ENST00000674127.2:c.*588C>A (GLA)	ENSP00000501044.2:n.*588C>A
ENST00000710365.1:c.1160C>A (GLA)	ENSP00000518234.1:p.Pro387His
ENST00000218516.4:c.1085C>A (GLA) MANE Select	ENSP00000218516.4:p.Pro362His
ENST00000466414.2:n.1221C>A (GLA)
ENST00000468823.2:n.2507C>A (GLA)
ENST00000479445.2:n.1699C>A (GLA)
ENST00000480513.6:c.*393C>A (GLA)	ENSP00000497055.1:n.*393C>A
ENST00000486121.6:c.1130C>A (GLA)
ENST00000649178.1:c.1208C>A (GLA)	ENSP00000498186.1:p.Pro403His
ENST00000674127.1:c.1185C>A (GLA)	ENSP00000501044.1:n.1185C>A
ENST00000674142.1:n.1389C>A (GLA)
ENST00000675592.1:c.887C>A (GLA)	ENSP00000502239.1:p.Pro296His
ENST00000675799.1:c.*610C>A (GLA)	ENSP00000502661.1:n.*610C>A
ENST00000675968.1:n.3956C>A (GLA)
ENST00000676156.1:c.1049C>A (GLA)	ENSP00000501730.1:p.Pro350His
ENST00000676372.1:c.1151C>A (GLA)	ENSP00000502805.1:n.1151C>A
ENST00000218516.3:c.1085C>A (GLA)	ENSP00000218516.3:p.Pro362His
ENST00000409170.3:c.300+2557G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2557G>T
ENST00000409338.5:c.177+6192G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6192G>T
ENST00000466414.1:n.411C>A (GLA)
ENST00000493905.6:c.*473C>A (GLA)	ENSP00000476935.1:n.*473C>A
NM_000169.2:c.1085C>A , LRG_672t1:c.1085C>A (GLA)	NP_000160.1:p.Pro362His
NM_001199973.1:c.408+2557G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2557G>T
NM_001199974.1:c.285+6192G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6192G>T
XR_938397.1:n.1170C>A (GLA)
XR_938397.2:n.1191C>A (GLA)
NM_001199973.2:c.300+2557G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2557G>T
NM_001199974.2:c.177+6192G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6192G>T
NM_000169.3:c.1085C>A (GLA) MANE Select	NP_000160.1:p.Pro362His
NR_164783.1:n.1164C>A (GLA)