Canonical Allele Identifier: CA413925068

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398930A>G , CM000685.2:g.101398930A>G	GRCh38
NC_000023.10:g.100653918A>G , CM000685.1:g.100653918A>G	GRCh37
NC_000023.9:g.100540574A>G	NCBI36
NG_007119.1:g.14034T>C , LRG_672:g.14034T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.656T>C (GLA) MANE Select	NP_000160.1:p.Ile219Thr
ENST00000218516.4:c.656T>C (GLA) MANE Select	ENSP00000218516.4:p.Ile219Thr
NM_000169.2:c.656T>C , LRG_672t1:c.656T>C (GLA)	NP_000160.1:p.Ile219Thr
NM_001199973.1:c.408+3473A>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3473A>G
NM_001199973.2:c.300+3473A>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3473A>G
NM_001199974.1:c.285+7108A>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7108A>G
NM_001199974.2:c.177+7108A>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7108A>G
NR_164783.1:n.735T>C (GLA)
ENST00000218516.3:c.656T>C (GLA)	ENSP00000218516.3:p.Ile219Thr
ENST00000409170.3:c.300+3473A>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3473A>G
ENST00000409338.5:c.177+7108A>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7108A>G
ENST00000466414.2:n.575T>C (GLA)
ENST00000468823.1:n.205T>C (GLA)
ENST00000468823.2:n.1591T>C (GLA)
ENST00000479445.2:n.1053T>C (GLA)
ENST00000480513.5:n.494T>C (GLA)
ENST00000480513.6:c.564T>C (GLA)	ENSP00000497055.1:p.Asn188=
ENST00000486121.5:n.701T>C (GLA)
ENST00000486121.6:c.701T>C (GLA)
ENST00000486121.7:c.*102T>C (GLA)	ENSP00000501124.2:n.*102T>C
ENST00000493905.6:c.*44T>C (GLA)	ENSP00000476935.1:n.*44T>C
ENST00000649178.1:c.779T>C (GLA)	ENSP00000498186.1:p.Ile260Thr
ENST00000674127.1:c.756T>C (GLA)	ENSP00000501044.1:n.756T>C
ENST00000674127.2:c.*159T>C (GLA)	ENSP00000501044.2:n.*159T>C
ENST00000674142.1:n.743T>C (GLA)
ENST00000674634.2:c.656T>C (GLA)	ENSP00000502629.2:p.Ile219Thr
ENST00000675592.1:c.656T>C (GLA)	ENSP00000502239.1:p.Ile219Thr
ENST00000675799.1:c.564T>C (GLA)	ENSP00000502661.1:p.Asn188=
ENST00000675968.1:n.3310T>C (GLA)
ENST00000676156.1:c.620T>C (GLA)	ENSP00000501730.1:p.Ile207Thr
ENST00000676372.1:c.656T>C (GLA)	ENSP00000502805.1:p.Ile219Thr
ENST00000710365.1:c.731T>C (GLA)	ENSP00000518234.1:p.Ile244Thr
XR_938397.1:n.741T>C (GLA)
XR_938397.2:n.762T>C (GLA)