Canonical Allele Identifier: CA2695234921

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398737A>C , CM000685.2:g.101398737A>C	GRCh38
NC_000023.10:g.100653725A>C , CM000685.1:g.100653725A>C	GRCh37
NC_000023.9:g.100540381A>C	NCBI36
NG_007119.1:g.14227T>G , LRG_672:g.14227T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*247+48T>G (GLA)	ENSP00000501124.2:n.*247+48T>G
ENST00000674127.2:c.*304+48T>G (GLA)	ENSP00000501044.2:n.*304+48T>G
ENST00000710365.1:c.876+48T>G (GLA)	ENSP00000518234.1:n.876+48T>G
ENST00000218516.4:c.801+48T>G (GLA) MANE Select	ENSP00000218516.4:n.801+48T>G
ENST00000466414.2:n.768T>G (GLA)
ENST00000468823.2:n.1784T>G (GLA)
ENST00000479445.2:n.1246T>G (GLA)
ENST00000480513.6:c.*109+48T>G (GLA)	ENSP00000497055.1:n.*109+48T>G
ENST00000486121.6:c.846+48T>G (GLA)
ENST00000649178.1:c.924+48T>G (GLA)	ENSP00000498186.1:n.924+48T>G
ENST00000674127.1:c.901+48T>G (GLA)	ENSP00000501044.1:n.901+48T>G
ENST00000674142.1:n.936T>G (GLA)
ENST00000674634.2:c.801+48T>G (GLA)	ENSP00000502629.2:n.801+48T>G
ENST00000675592.1:c.801+48T>G (GLA)	ENSP00000502239.1:n.801+48T>G
ENST00000675799.1:c.*157T>G (GLA)	ENSP00000502661.1:n.*157T>G
ENST00000675968.1:n.3503T>G (GLA)
ENST00000676156.1:c.765+48T>G (GLA)	ENSP00000501730.1:n.765+48T>G
ENST00000676372.1:c.849T>G (GLA)	ENSP00000502805.1:n.849T>G
ENST00000218516.3:c.801+48T>G (GLA)	ENSP00000218516.3:n.801+48T>G
ENST00000409170.3:c.300+3280A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3280A>C
ENST00000409338.5:c.177+6915A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6915A>C
ENST00000468823.1:n.398T>G (GLA)
ENST00000493905.6:c.*189+48T>G (GLA)	ENSP00000476935.1:n.*189+48T>G
NM_000169.2:c.801+48T>G , LRG_672t1:c.801+48T>G (GLA)	NP_000160.1:n.801+48T>G
NM_001199973.1:c.408+3280A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3280A>C
NM_001199974.1:c.285+6915A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6915A>C
XR_938397.1:n.886+48T>G (GLA)
XR_938397.2:n.907+48T>G (GLA)
NM_001199973.2:c.300+3280A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3280A>C
NM_001199974.2:c.177+6915A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6915A>C
NM_000169.3:c.801+48T>G (GLA) MANE Select	NP_000160.1:n.801+48T>G
NR_164783.1:n.880+48T>G (GLA)