Canonical Allele Identifier: CA869305188

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1432540330
• gnomAD v3: X-101401080-C-G
• gnomAD v4: X-101401080-C-G
• MyVariant Identifiers: chrX:g.101401080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401080C>G , CM000685.2:g.101401080C>G	GRCh38
NC_000023.10:g.100656068C>G , CM000685.1:g.100656068C>G	GRCh37
NC_000023.9:g.100542724C>G	NCBI36
NG_007119.1:g.11884G>C , LRG_672:g.11884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.662+153G>C (GLA)	ENSP00000501124.2:n.662+153G>C
ENST00000674127.2:c.662+153G>C (GLA)	ENSP00000501044.2:n.662+153G>C
ENST00000710365.1:c.623-323G>C (GLA)	ENSP00000518234.1:n.623-323G>C
ENST00000218516.4:c.548-323G>C (GLA) MANE Select	ENSP00000218516.4:n.548-323G>C
ENST00000466414.2:n.467-323G>C (GLA)
ENST00000468823.2:n.1160G>C (GLA)
ENST00000479445.2:n.944+153G>C (GLA)
ENST00000480513.6:c.547+552G>C (GLA)	ENSP00000497055.1:n.547+552G>C
ENST00000486121.6:c.592+153G>C (GLA)
ENST00000649178.1:c.671-323G>C (GLA)	ENSP00000498186.1:n.671-323G>C
ENST00000674127.1:c.590+153G>C (GLA)	ENSP00000501044.1:n.590+153G>C
ENST00000674142.1:n.635-323G>C (GLA)
ENST00000674634.2:c.548-323G>C (GLA)	ENSP00000502629.2:n.548-323G>C
ENST00000675592.1:c.548-323G>C (GLA)	ENSP00000502239.1:n.548-323G>C
ENST00000675799.1:c.547+552G>C (GLA)	ENSP00000502661.1:n.547+552G>C
ENST00000675968.1:n.1160G>C (GLA)
ENST00000676156.1:c.512-323G>C (GLA)	ENSP00000501730.1:n.512-323G>C
ENST00000676372.1:c.548-323G>C (GLA)	ENSP00000502805.1:n.548-323G>C
ENST00000218516.3:c.548-323G>C (GLA)	ENSP00000218516.3:n.548-323G>C
ENST00000409170.3:c.300+5623C>G (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5623C>G
ENST00000409338.5:c.177+9258C>G (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9258C>G
ENST00000480513.5:n.477+552G>C (GLA)
ENST00000486121.5:n.592+153G>C (GLA)
ENST00000493905.6:c.548-323G>C (GLA)	ENSP00000476935.1:n.548-323G>C
NM_000169.2:c.548-323G>C , LRG_672t1:c.548-323G>C (GLA)	NP_000160.1:n.548-323G>C
NM_001199973.1:c.408+5623C>G (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5623C>G
NM_001199974.1:c.285+9258C>G (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9258C>G
XR_938397.1:n.576-323G>C (GLA)
XR_938397.2:n.597-323G>C (GLA)
NM_001199973.2:c.300+5623C>G (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5623C>G
NM_001199974.2:c.177+9258C>G (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9258C>G
NM_000169.3:c.548-323G>C (GLA) MANE Select	NP_000160.1:n.548-323G>C
NR_164783.1:n.570-323G>C (GLA)