Canonical Allele Identifier: CA413923369

Gene: GLA RPL36A-HNRNPH2

Linked Data

• COSMIC: COSM6386146
• MyVariant Identifiers: chrX:g.100653541G>C (hg19) ; chrX:g.101398553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398553G>C , CM000685.2:g.101398553G>C	GRCh38
NC_000023.10:g.100653541G>C , CM000685.1:g.100653541G>C	GRCh37
NC_000023.9:g.100540197G>C	NCBI36
NG_007119.1:g.14411C>G , LRG_672:g.14411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*262C>G (GLA)	ENSP00000501124.2:n.*262C>G
ENST00000674127.2:c.*319C>G (GLA)	ENSP00000501044.2:n.*319C>G
ENST00000710365.1:c.891C>G (GLA)	ENSP00000518234.1:p.Asn297Lys
ENST00000218516.4:c.816C>G (GLA) MANE Select	ENSP00000218516.4:p.Asn272Lys
ENST00000466414.2:n.952C>G (GLA)
ENST00000468823.2:n.1968C>G (GLA)
ENST00000479445.2:n.1430C>G (GLA)
ENST00000480513.6:c.*124C>G (GLA)	ENSP00000497055.1:n.*124C>G
ENST00000486121.6:c.861C>G (GLA)
ENST00000649178.1:c.939C>G (GLA)	ENSP00000498186.1:p.Asn313Lys
ENST00000674127.1:c.916C>G (GLA)	ENSP00000501044.1:n.916C>G
ENST00000674142.1:n.1120C>G (GLA)
ENST00000674634.2:c.816C>G (GLA)	ENSP00000502629.2:p.Asn272Lys
ENST00000675592.1:c.801+232C>G (GLA)	ENSP00000502239.1:n.801+232C>G
ENST00000675799.1:c.*341C>G (GLA)	ENSP00000502661.1:n.*341C>G
ENST00000675968.1:n.3687C>G (GLA)
ENST00000676156.1:c.780C>G (GLA)	ENSP00000501730.1:p.Asn260Lys
ENST00000676372.1:c.882C>G (GLA)	ENSP00000502805.1:n.882C>G
ENST00000218516.3:c.816C>G (GLA)	ENSP00000218516.3:p.Asn272Lys
ENST00000409170.3:c.300+3096G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3096G>C
ENST00000409338.5:c.177+6731G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6731G>C
ENST00000466414.1:n.142C>G (GLA)
ENST00000468823.1:n.582C>G (GLA)
ENST00000493905.6:c.*204C>G (GLA)	ENSP00000476935.1:n.*204C>G
NM_000169.2:c.816C>G , LRG_672t1:c.816C>G (GLA)	NP_000160.1:p.Asn272Lys
NM_001199973.1:c.408+3096G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3096G>C
NM_001199974.1:c.285+6731G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6731G>C
XR_938397.1:n.901C>G (GLA)
XR_938397.2:n.922C>G (GLA)
NM_001199973.2:c.300+3096G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3096G>C
NM_001199974.2:c.177+6731G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6731G>C
NM_000169.3:c.816C>G (GLA) MANE Select	NP_000160.1:p.Asn272Lys
NR_164783.1:n.895C>G (GLA)