Canonical Allele Identifier: CA413928966

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401675T>A , CM000685.2:g.101401675T>A	GRCh38
NC_000023.10:g.100656663T>A , CM000685.1:g.100656663T>A	GRCh37
NC_000023.9:g.100543319T>A	NCBI36
NG_007119.1:g.11289A>T , LRG_672:g.11289A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.504A>T (GLA) MANE Select	NP_000160.1:p.Lys168Asn
ENST00000218516.4:c.504A>T (GLA) MANE Select	ENSP00000218516.4:p.Lys168Asn
NM_000169.2:c.504A>T , LRG_672t1:c.504A>T (GLA)	NP_000160.1:p.Lys168Asn
NM_001199973.1:c.408+6218T>A (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6218T>A
NM_001199973.2:c.300+6218T>A (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6218T>A
NM_001199974.1:c.285+9853T>A (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9853T>A
NM_001199974.2:c.177+9853T>A (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9853T>A
NR_164783.1:n.526A>T (GLA)
ENST00000218516.3:c.504A>T (GLA)	ENSP00000218516.3:p.Lys168Asn
ENST00000409170.3:c.300+6218T>A (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6218T>A
ENST00000409338.5:c.177+9853T>A (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9853T>A
ENST00000466414.2:n.423A>T (GLA)
ENST00000468823.2:n.565A>T (GLA)
ENST00000479445.1:n.488A>T (GLA)
ENST00000479445.2:n.502A>T (GLA)
ENST00000480513.5:n.434A>T (GLA)
ENST00000480513.6:c.504A>T (GLA)	ENSP00000497055.1:p.Lys168Asn
ENST00000486121.5:n.434A>T (GLA)
ENST00000486121.6:c.434A>T (GLA)
ENST00000486121.7:c.504A>T (GLA)	ENSP00000501124.2:p.Lys168Asn
ENST00000493905.6:c.504A>T (GLA)	ENSP00000476935.1:p.Lys168Asn
ENST00000649178.1:c.627A>T (GLA)	ENSP00000498186.1:p.Lys209Asn
ENST00000674127.1:c.432A>T (GLA)	ENSP00000501044.1:p.Lys144Asn
ENST00000674127.2:c.504A>T (GLA)	ENSP00000501044.2:p.Lys168Asn
ENST00000674142.1:n.591A>T (GLA)
ENST00000674634.2:c.504A>T (GLA)	ENSP00000502629.2:p.Lys168Asn
ENST00000675592.1:c.504A>T (GLA)	ENSP00000502239.1:p.Lys168Asn
ENST00000675799.1:c.504A>T (GLA)	ENSP00000502661.1:p.Lys168Asn
ENST00000675968.1:n.565A>T (GLA)
ENST00000676156.1:c.504A>T (GLA)	ENSP00000501730.1:p.Lys168Asn
ENST00000676372.1:c.504A>T (GLA)	ENSP00000502805.1:p.Lys168Asn
ENST00000710365.1:c.579A>T (GLA)	ENSP00000518234.1:p.Lys193Asn
XR_938397.1:n.532A>T (GLA)
XR_938397.2:n.553A>T (GLA)