Canonical Allele Identifier: CA413924070

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653808C>T (hg19) ; chrX:g.101398820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398820C>T , CM000685.2:g.101398820C>T	GRCh38
NC_000023.10:g.100653808C>T , CM000685.1:g.100653808C>T	GRCh37
NC_000023.9:g.100540464C>T	NCBI36
NG_007119.1:g.14144G>A , LRG_672:g.14144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*212G>A (GLA)	ENSP00000501124.2:n.*212G>A
ENST00000674127.2:c.*269G>A (GLA)	ENSP00000501044.2:n.*269G>A
ENST00000710365.1:c.841G>A (GLA)	ENSP00000518234.1:p.Val281Ile
ENST00000218516.4:c.766G>A (GLA) MANE Select	ENSP00000218516.4:p.Val256Ile
ENST00000466414.2:n.685G>A (GLA)
ENST00000468823.2:n.1701G>A (GLA)
ENST00000479445.2:n.1163G>A (GLA)
ENST00000480513.6:c.*74G>A (GLA)	ENSP00000497055.1:n.*74G>A
ENST00000486121.6:c.811G>A (GLA)
ENST00000649178.1:c.889G>A (GLA)	ENSP00000498186.1:p.Val297Ile
ENST00000674127.1:c.866G>A (GLA)	ENSP00000501044.1:n.866G>A
ENST00000674142.1:n.853G>A (GLA)
ENST00000674634.2:c.766G>A (GLA)	ENSP00000502629.2:p.Val256Ile
ENST00000675592.1:c.766G>A (GLA)	ENSP00000502239.1:p.Val256Ile
ENST00000675799.1:c.*74G>A (GLA)	ENSP00000502661.1:n.*74G>A
ENST00000675968.1:n.3420G>A (GLA)
ENST00000676156.1:c.730G>A (GLA)	ENSP00000501730.1:p.Val244Ile
ENST00000676372.1:c.766G>A (GLA)	ENSP00000502805.1:p.Val256Ile
ENST00000218516.3:c.766G>A (GLA)	ENSP00000218516.3:p.Val256Ile
ENST00000409170.3:c.300+3363C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3363C>T
ENST00000409338.5:c.177+6998C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6998C>T
ENST00000468823.1:n.315G>A (GLA)
ENST00000480513.5:n.604G>A (GLA)
ENST00000493905.6:c.*154G>A (GLA)	ENSP00000476935.1:n.*154G>A
NM_000169.2:c.766G>A , LRG_672t1:c.766G>A (GLA)	NP_000160.1:p.Val256Ile
NM_001199973.1:c.408+3363C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3363C>T
NM_001199974.1:c.285+6998C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6998C>T
XR_938397.1:n.851G>A (GLA)
XR_938397.2:n.872G>A (GLA)
NM_001199973.2:c.300+3363C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3363C>T
NM_001199974.2:c.177+6998C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6998C>T
NM_000169.3:c.766G>A (GLA) MANE Select	NP_000160.1:p.Val256Ile
NR_164783.1:n.845G>A (GLA)