Canonical Allele Identifier: CA2694298445

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101399087-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399087G>C , CM000685.2:g.101399087G>C	GRCh38
NC_000023.10:g.100654075G>C , CM000685.1:g.100654075G>C	GRCh37
NC_000023.9:g.100540731G>C	NCBI36
NG_007119.1:g.13877C>G , LRG_672:g.13877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-141C>G (GLA)	ENSP00000501124.2:n.*86-141C>G
ENST00000674127.2:c.*143-141C>G (GLA)	ENSP00000501044.2:n.*143-141C>G
ENST00000710365.1:c.715-141C>G (GLA)	ENSP00000518234.1:n.715-141C>G
ENST00000218516.4:c.640-141C>G (GLA) MANE Select	ENSP00000218516.4:n.640-141C>G
ENST00000466414.2:n.559-141C>G (GLA)
ENST00000468823.2:n.1575-141C>G (GLA)
ENST00000479445.2:n.1037-141C>G (GLA)
ENST00000480513.6:c.548-141C>G (GLA)	ENSP00000497055.1:n.548-141C>G
ENST00000486121.6:c.685-141C>G (GLA)
ENST00000649178.1:c.763-141C>G (GLA)	ENSP00000498186.1:n.763-141C>G
ENST00000674127.1:c.740-141C>G (GLA)	ENSP00000501044.1:n.740-141C>G
ENST00000674142.1:n.727-141C>G (GLA)
ENST00000674634.2:c.640-141C>G (GLA)	ENSP00000502629.2:n.640-141C>G
ENST00000675592.1:c.640-141C>G (GLA)	ENSP00000502239.1:n.640-141C>G
ENST00000675799.1:c.548-141C>G (GLA)	ENSP00000502661.1:n.548-141C>G
ENST00000675968.1:n.3153C>G (GLA)
ENST00000676156.1:c.604-141C>G (GLA)	ENSP00000501730.1:n.604-141C>G
ENST00000676372.1:c.640-141C>G (GLA)	ENSP00000502805.1:n.640-141C>G
ENST00000218516.3:c.640-141C>G (GLA)	ENSP00000218516.3:n.640-141C>G
ENST00000409170.3:c.300+3630G>C (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3630G>C
ENST00000409338.5:c.177+7265G>C (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7265G>C
ENST00000468823.1:n.189-141C>G (GLA)
ENST00000480513.5:n.478-141C>G (GLA)
ENST00000486121.5:n.685-141C>G (GLA)
ENST00000493905.6:c.*28-141C>G (GLA)	ENSP00000476935.1:n.*28-141C>G
NM_000169.2:c.640-141C>G , LRG_672t1:c.640-141C>G (GLA)	NP_000160.1:n.640-141C>G
NM_001199973.1:c.408+3630G>C (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3630G>C
NM_001199974.1:c.285+7265G>C (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7265G>C
XR_938397.1:n.725-141C>G (GLA)
XR_938397.2:n.746-141C>G (GLA)
NM_001199973.2:c.300+3630G>C (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3630G>C
NM_001199974.2:c.177+7265G>C (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7265G>C
NM_000169.3:c.640-141C>G (GLA) MANE Select	NP_000160.1:n.640-141C>G
NR_164783.1:n.719-141C>G (GLA)