Canonical Allele Identifier: CA517519614

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652941G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397953G>A , CM000685.2:g.101397953G>A	GRCh38
NC_000023.10:g.100652941G>A , CM000685.1:g.100652941G>A	GRCh37
NC_000023.9:g.100539597G>A	NCBI36
NG_007119.1:g.15011C>T , LRG_672:g.15011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*592C>T (GLA)	ENSP00000501124.2:n.*592C>T
ENST00000674127.2:c.*649C>T (GLA)	ENSP00000501044.2:n.*649C>T
ENST00000710365.1:c.1221C>T (GLA)	ENSP00000518234.1:p.Cys407=
ENST00000218516.4:c.1146C>T (GLA) MANE Select	ENSP00000218516.4:p.Cys382=
ENST00000466414.2:n.1282C>T (GLA)
ENST00000468823.2:n.2568C>T (GLA)
ENST00000479445.2:n.1760C>T (GLA)
ENST00000480513.6:c.*454C>T (GLA)	ENSP00000497055.1:n.*454C>T
ENST00000486121.6:c.1191C>T (GLA)
ENST00000649178.1:c.1269C>T (GLA)	ENSP00000498186.1:p.Cys423=
ENST00000674127.1:c.1246C>T (GLA)	ENSP00000501044.1:n.1246C>T
ENST00000674142.1:n.1421+29C>T (GLA)
ENST00000675592.1:c.948C>T (GLA)	ENSP00000502239.1:p.Cys316=
ENST00000675799.1:c.*671C>T (GLA)	ENSP00000502661.1:n.*671C>T
ENST00000675968.1:n.4017C>T (GLA)
ENST00000676156.1:c.1110C>T (GLA)	ENSP00000501730.1:p.Cys370=
ENST00000676372.1:c.1212C>T (GLA)	ENSP00000502805.1:n.1212C>T
ENST00000218516.3:c.1146C>T (GLA)	ENSP00000218516.3:p.Cys382=
ENST00000409170.3:c.300+2496G>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2496G>A
ENST00000409338.5:c.177+6131G>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6131G>A
ENST00000466414.1:n.472C>T (GLA)
ENST00000493905.6:c.*534C>T (GLA)	ENSP00000476935.1:n.*534C>T
NM_000169.2:c.1146C>T , LRG_672t1:c.1146C>T (GLA)	NP_000160.1:p.Cys382=
NM_001199973.1:c.408+2496G>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2496G>A
NM_001199974.1:c.285+6131G>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6131G>A
XR_938397.1:n.1231C>T (GLA)
XR_938397.2:n.1252C>T (GLA)
NM_001199973.2:c.300+2496G>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2496G>A
NM_001199974.2:c.177+6131G>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6131G>A
NM_000169.3:c.1146C>T (GLA) MANE Select	NP_000160.1:p.Cys382=
NR_164783.1:n.1225C>T (GLA)