Canonical Allele Identifier: CA517736856

Gene: GLA RPL36A-HNRNPH2

Linked Data

• MyVariant Identifiers: chrX:g.100653535G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398547G>C , CM000685.2:g.101398547G>C	GRCh38
NC_000023.10:g.100653535G>C , CM000685.1:g.100653535G>C	GRCh37
NC_000023.9:g.100540191G>C	NCBI36
NG_007119.1:g.14417C>G , LRG_672:g.14417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*268C>G (GLA)	ENSP00000501124.2:n.*268C>G
ENST00000674127.2:c.*325C>G (GLA)	ENSP00000501044.2:n.*325C>G
ENST00000710365.1:c.897C>G (GLA)	ENSP00000518234.1:p.Gly299=
ENST00000218516.4:c.822C>G (GLA) MANE Select	ENSP00000218516.4:p.Gly274=
ENST00000466414.2:n.958C>G (GLA)
ENST00000468823.2:n.1974C>G (GLA)
ENST00000479445.2:n.1436C>G (GLA)
ENST00000480513.6:c.*130C>G (GLA)	ENSP00000497055.1:n.*130C>G
ENST00000486121.6:c.867C>G (GLA)
ENST00000649178.1:c.945C>G (GLA)	ENSP00000498186.1:p.Gly315=
ENST00000674127.1:c.922C>G (GLA)	ENSP00000501044.1:n.922C>G
ENST00000674142.1:n.1126C>G (GLA)
ENST00000674634.2:c.822C>G (GLA)	ENSP00000502629.2:p.Gly274=
ENST00000675592.1:c.801+238C>G (GLA)	ENSP00000502239.1:n.801+238C>G
ENST00000675799.1:c.*347C>G (GLA)	ENSP00000502661.1:n.*347C>G
ENST00000675968.1:n.3693C>G (GLA)
ENST00000676156.1:c.786C>G (GLA)	ENSP00000501730.1:p.Gly262=
ENST00000676372.1:c.888C>G (GLA)	ENSP00000502805.1:n.888C>G
ENST00000218516.3:c.822C>G (GLA)	ENSP00000218516.3:p.Gly274=
ENST00000409170.3:c.300+3090G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3090G>C
ENST00000409338.5:c.177+6725G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6725G>C
ENST00000466414.1:n.148C>G (GLA)
ENST00000468823.1:n.588C>G (GLA)
ENST00000493905.6:c.*210C>G (GLA)	ENSP00000476935.1:n.*210C>G
NM_000169.2:c.822C>G , LRG_672t1:c.822C>G (GLA)	NP_000160.1:p.Gly274=
NM_001199973.1:c.408+3090G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3090G>C
NM_001199974.1:c.285+6725G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6725G>C
XR_938397.1:n.907C>G (GLA)
XR_938397.2:n.928C>G (GLA)
NM_001199973.2:c.300+3090G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3090G>C
NM_001199974.2:c.177+6725G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6725G>C
NM_000169.3:c.822C>G (GLA) MANE Select	NP_000160.1:p.Gly274=
NR_164783.1:n.901C>G (GLA)