Canonical Allele Identifier: CA517737274

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653932G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398944G>C , CM000685.2:g.101398944G>C	GRCh38
NC_000023.10:g.100653932G>C , CM000685.1:g.100653932G>C	GRCh37
NC_000023.9:g.100540588G>C	NCBI36
NG_007119.1:g.14020C>G , LRG_672:g.14020C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*88C>G (GLA)	ENSP00000501124.2:n.*88C>G
ENST00000674127.2:c.*145C>G (GLA)	ENSP00000501044.2:n.*145C>G
ENST00000710365.1:c.717C>G (GLA)	ENSP00000518234.1:p.Pro239=
ENST00000218516.4:c.642C>G (GLA) MANE Select	ENSP00000218516.4:p.Pro214=
ENST00000466414.2:n.561C>G (GLA)
ENST00000468823.2:n.1577C>G (GLA)
ENST00000479445.2:n.1039C>G (GLA)
ENST00000480513.6:c.550C>G (GLA)	ENSP00000497055.1:p.Gln184Glu
ENST00000486121.6:c.687C>G (GLA)
ENST00000649178.1:c.765C>G (GLA)	ENSP00000498186.1:p.Pro255=
ENST00000674127.1:c.742C>G (GLA)	ENSP00000501044.1:n.742C>G
ENST00000674142.1:n.729C>G (GLA)
ENST00000674634.2:c.642C>G (GLA)	ENSP00000502629.2:p.Pro214=
ENST00000675592.1:c.642C>G (GLA)	ENSP00000502239.1:p.Pro214=
ENST00000675799.1:c.550C>G (GLA)	ENSP00000502661.1:p.Gln184Glu
ENST00000675968.1:n.3296C>G (GLA)
ENST00000676156.1:c.606C>G (GLA)	ENSP00000501730.1:p.Pro202=
ENST00000676372.1:c.642C>G (GLA)	ENSP00000502805.1:p.Pro214=
ENST00000218516.3:c.642C>G (GLA)	ENSP00000218516.3:p.Pro214=
ENST00000409170.3:c.300+3487G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3487G>C
ENST00000409338.5:c.177+7122G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7122G>C
ENST00000468823.1:n.191C>G (GLA)
ENST00000480513.5:n.480C>G (GLA)
ENST00000486121.5:n.687C>G (GLA)
ENST00000493905.6:c.*30C>G (GLA)	ENSP00000476935.1:n.*30C>G
NM_000169.2:c.642C>G , LRG_672t1:c.642C>G (GLA)	NP_000160.1:p.Pro214=
NM_001199973.1:c.408+3487G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3487G>C
NM_001199974.1:c.285+7122G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7122G>C
XR_938397.1:n.727C>G (GLA)
XR_938397.2:n.748C>G (GLA)
NM_001199973.2:c.300+3487G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3487G>C
NM_001199974.2:c.177+7122G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7122G>C
NM_000169.3:c.642C>G (GLA) MANE Select	NP_000160.1:p.Pro214=
NR_164783.1:n.721C>G (GLA)