Canonical Allele Identifier: CA413918726

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100652816G>T (hg19) ; chrX:g.101397828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397828G>T , CM000685.2:g.101397828G>T	GRCh38
NC_000023.10:g.100652816G>T , CM000685.1:g.100652816G>T	GRCh37
NC_000023.9:g.100539472G>T	NCBI36
NG_007119.1:g.15136C>A , LRG_672:g.15136C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000674127.2:c.*774C>A (GLA)	ENSP00000501044.2:n.*774C>A
ENST00000710365.1:c.1346C>A (GLA)	ENSP00000518234.1:p.Ser449Ter
ENST00000218516.4:c.1271C>A (GLA) MANE Select	ENSP00000218516.4:p.Ser424Ter
ENST00000466414.2:n.1407C>A (GLA)
ENST00000468823.2:n.2693C>A (GLA)
ENST00000479445.2:n.1885C>A (GLA)
ENST00000649178.1:c.1394C>A (GLA)	ENSP00000498186.1:p.Ser465Ter
ENST00000674127.1:c.1371C>A (GLA)	ENSP00000501044.1:n.1371C>A
ENST00000674142.1:n.1421+154C>A (GLA)
ENST00000675592.1:c.1073C>A (GLA)	ENSP00000502239.1:p.Ser358Ter
ENST00000675968.1:n.4142C>A (GLA)
ENST00000676156.1:c.1235C>A (GLA)	ENSP00000501730.1:p.Ser412Ter
ENST00000676372.1:c.1337C>A (GLA)	ENSP00000502805.1:n.1337C>A
ENST00000218516.3:c.1271C>A (GLA)	ENSP00000218516.3:p.Ser424Ter
ENST00000409170.3:c.300+2371G>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2371G>T
ENST00000409338.5:c.177+6006G>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6006G>T
ENST00000466414.1:n.597C>A (GLA)
ENST00000493905.6:c.*659C>A (GLA)	ENSP00000476935.1:n.*659C>A
NM_000169.2:c.1271C>A , LRG_672t1:c.1271C>A (GLA)	NP_000160.1:p.Ser424Ter
NM_001199973.1:c.408+2371G>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2371G>T
NM_001199974.1:c.285+6006G>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6006G>T
XR_938397.1:n.1356C>A (GLA)
XR_938397.2:n.1377C>A (GLA)
NM_001199973.2:c.300+2371G>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2371G>T
NM_001199974.2:c.177+6006G>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6006G>T
NM_000169.3:c.1271C>A (GLA) MANE Select	NP_000160.1:p.Ser424Ter
NR_164783.1:n.1350C>A (GLA)