Canonical Allele Identifier: CA352973

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400694C>T , CM000685.2:g.101400694C>T	GRCh38
NC_000023.10:g.100655682C>T , CM000685.1:g.100655682C>T	GRCh37
NC_000023.9:g.100542338C>T	NCBI36
NG_007119.1:g.12270G>A , LRG_672:g.12270G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.611G>A (GLA) MANE Select	NP_000160.1:p.Trp204Ter
ENST00000218516.4:c.611G>A (GLA) MANE Select	ENSP00000218516.4:p.Trp204Ter
NM_000169.2:c.611G>A , LRG_672t1:c.611G>A (GLA)	NP_000160.1:p.Trp204Ter
NM_001199973.1:c.408+5237C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5237C>T
NM_001199973.2:c.300+5237C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5237C>T
NM_001199974.1:c.285+8872C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8872C>T
NM_001199974.2:c.177+8872C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8872C>T
NR_164783.1:n.633G>A (GLA)
ENST00000218516.3:c.611G>A (GLA)	ENSP00000218516.3:p.Trp204Ter
ENST00000409170.3:c.300+5237C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5237C>T
ENST00000409338.5:c.177+8872C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8872C>T
ENST00000466414.2:n.530G>A (GLA)
ENST00000468823.1:n.160G>A (GLA)
ENST00000468823.2:n.1546G>A (GLA)
ENST00000479445.2:n.1008G>A (GLA)
ENST00000480513.5:n.477+938G>A (GLA)
ENST00000480513.6:c.547+938G>A (GLA)	ENSP00000497055.1:n.547+938G>A
ENST00000486121.5:n.656G>A (GLA)
ENST00000486121.6:c.656G>A (GLA)
ENST00000486121.7:c.*57G>A (GLA)	ENSP00000501124.2:n.*57G>A
ENST00000493905.6:c.611G>A (GLA)	ENSP00000476935.1:p.Trp204Ter
ENST00000649178.1:c.734G>A (GLA)	ENSP00000498186.1:p.Trp245Ter
ENST00000674127.1:c.654G>A (GLA)	ENSP00000501044.1:n.654G>A
ENST00000674127.2:c.*57G>A (GLA)	ENSP00000501044.2:n.*57G>A
ENST00000674142.1:n.698G>A (GLA)
ENST00000674634.2:c.611G>A (GLA)	ENSP00000502629.2:p.Trp204Ter
ENST00000675592.1:c.611G>A (GLA)	ENSP00000502239.1:p.Trp204Ter
ENST00000675799.1:c.547+938G>A (GLA)	ENSP00000502661.1:n.547+938G>A
ENST00000675968.1:n.1546G>A (GLA)
ENST00000676156.1:c.575G>A (GLA)	ENSP00000501730.1:p.Trp192Ter
ENST00000676372.1:c.611G>A (GLA)	ENSP00000502805.1:p.Trp204Ter
ENST00000710365.1:c.686G>A (GLA)	ENSP00000518234.1:p.Trp229Ter
XR_938397.1:n.639G>A (GLA)
XR_938397.2:n.660G>A (GLA)