Canonical Allele Identifier: CA352677

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312429
• MyVariant Identifiers: chrX:g.100653545C>G (hg19) ; chrX:g.101398557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398557C>G , CM000685.2:g.101398557C>G	GRCh38
NC_000023.10:g.100653545C>G , CM000685.1:g.100653545C>G	GRCh37
NC_000023.9:g.100540201C>G	NCBI36
NG_007119.1:g.14407G>C , LRG_672:g.14407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*258G>C (GLA)	ENSP00000501124.2:n.*258G>C
ENST00000674127.2:c.*315G>C (GLA)	ENSP00000501044.2:n.*315G>C
ENST00000710365.1:c.887G>C (GLA)	ENSP00000518234.1:p.Gly296Ala
ENST00000218516.4:c.812G>C (GLA) MANE Select	ENSP00000218516.4:p.Gly271Ala
ENST00000466414.2:n.948G>C (GLA)
ENST00000468823.2:n.1964G>C (GLA)
ENST00000479445.2:n.1426G>C (GLA)
ENST00000480513.6:c.*120G>C (GLA)	ENSP00000497055.1:n.*120G>C
ENST00000486121.6:c.857G>C (GLA)
ENST00000649178.1:c.935G>C (GLA)	ENSP00000498186.1:p.Gly312Ala
ENST00000674127.1:c.912G>C (GLA)	ENSP00000501044.1:n.912G>C
ENST00000674142.1:n.1116G>C (GLA)
ENST00000674634.2:c.812G>C (GLA)	ENSP00000502629.2:p.Gly271Ala
ENST00000675592.1:c.801+228G>C (GLA)	ENSP00000502239.1:n.801+228G>C
ENST00000675799.1:c.*337G>C (GLA)	ENSP00000502661.1:n.*337G>C
ENST00000675968.1:n.3683G>C (GLA)
ENST00000676156.1:c.776G>C (GLA)	ENSP00000501730.1:p.Gly259Ala
ENST00000676372.1:c.878G>C (GLA)	ENSP00000502805.1:n.878G>C
ENST00000218516.3:c.812G>C (GLA)	ENSP00000218516.3:p.Gly271Ala
ENST00000409170.3:c.300+3100C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3100C>G
ENST00000409338.5:c.177+6735C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6735C>G
ENST00000466414.1:n.138G>C (GLA)
ENST00000468823.1:n.578G>C (GLA)
ENST00000493905.6:c.*200G>C (GLA)	ENSP00000476935.1:n.*200G>C
NM_000169.2:c.812G>C , LRG_672t1:c.812G>C (GLA)	NP_000160.1:p.Gly271Ala
NM_001199973.1:c.408+3100C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3100C>G
NM_001199974.1:c.285+6735C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6735C>G
XR_938397.1:n.897G>C (GLA)
XR_938397.2:n.918G>C (GLA)
NM_001199973.2:c.300+3100C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3100C>G
NM_001199974.2:c.177+6735C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6735C>G
NM_000169.3:c.812G>C (GLA) MANE Select	NP_000160.1:p.Gly271Ala
NR_164783.1:n.891G>C (GLA)