Canonical Allele Identifier: CA021978

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 197640
• ClinVar RCV Id: RCV000723403 ; RCV001807115
• dbSNP Id: rs797044749
• MyVariant Identifiers: chrX:g.100653879A>C (hg19) ; chrX:g.101398891A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398891A>C , CM000685.2:g.101398891A>C	GRCh38
NC_000023.10:g.100653879A>C , CM000685.1:g.100653879A>C	GRCh37
NC_000023.9:g.100540535A>C	NCBI36
NG_007119.1:g.14073T>G , LRG_672:g.14073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*141T>G (GLA)	ENSP00000501124.2:n.*141T>G
ENST00000674127.2:c.*198T>G (GLA)	ENSP00000501044.2:n.*198T>G
ENST00000710365.1:c.770T>G (GLA)	ENSP00000518234.1:p.Ile257Ser
ENST00000218516.4:c.695T>G (GLA) MANE Select	ENSP00000218516.4:p.Ile232Ser
ENST00000466414.2:n.614T>G (GLA)
ENST00000468823.2:n.1630T>G (GLA)
ENST00000479445.2:n.1092T>G (GLA)
ENST00000480513.6:c.*3T>G (GLA)	ENSP00000497055.1:n.*3T>G
ENST00000486121.6:c.740T>G (GLA)
ENST00000649178.1:c.818T>G (GLA)	ENSP00000498186.1:p.Ile273Ser
ENST00000674127.1:c.795T>G (GLA)	ENSP00000501044.1:n.795T>G
ENST00000674142.1:n.782T>G (GLA)
ENST00000674634.2:c.695T>G (GLA)	ENSP00000502629.2:p.Ile232Ser
ENST00000675592.1:c.695T>G (GLA)	ENSP00000502239.1:p.Ile232Ser
ENST00000675799.1:c.*3T>G (GLA)	ENSP00000502661.1:n.*3T>G
ENST00000675968.1:n.3349T>G (GLA)
ENST00000676156.1:c.659T>G (GLA)	ENSP00000501730.1:p.Ile220Ser
ENST00000676372.1:c.695T>G (GLA)	ENSP00000502805.1:p.Ile232Ser
ENST00000218516.3:c.695T>G (GLA)	ENSP00000218516.3:p.Ile232Ser
ENST00000409170.3:c.300+3434A>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3434A>C
ENST00000409338.5:c.177+7069A>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7069A>C
ENST00000468823.1:n.244T>G (GLA)
ENST00000480513.5:n.533T>G (GLA)
ENST00000493905.6:c.*83T>G (GLA)	ENSP00000476935.1:n.*83T>G
NM_000169.2:c.695T>G , LRG_672t1:c.695T>G (GLA)	NP_000160.1:p.Ile232Ser
NM_001199973.1:c.408+3434A>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3434A>C
NM_001199974.1:c.285+7069A>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7069A>C
XR_938397.1:n.780T>G (GLA)
XR_938397.2:n.801T>G (GLA)
NM_001199973.2:c.300+3434A>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3434A>C
NM_001199974.2:c.177+7069A>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7069A>C
NM_000169.3:c.695T>G (GLA) MANE Select	NP_000160.1:p.Ile232Ser
NR_164783.1:n.774T>G (GLA)