Canonical Allele Identifier: CA2579664578

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398147C>T , CM000685.2:g.101398147C>T	GRCh38
NC_000023.10:g.100653135C>T , CM000685.1:g.100653135C>T	GRCh37
NC_000023.9:g.100539791C>T	NCBI36
NG_007119.1:g.14817G>A , LRG_672:g.14817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-48G>A (GLA)	ENSP00000501124.2:n.*446-48G>A
ENST00000674127.2:c.*503-48G>A (GLA)	ENSP00000501044.2:n.*503-48G>A
ENST00000710365.1:c.1075-48G>A (GLA)	ENSP00000518234.1:n.1075-48G>A
ENST00000218516.4:c.1000-48G>A (GLA) MANE Select	ENSP00000218516.4:n.1000-48G>A
ENST00000466414.2:n.1136-48G>A (GLA)
ENST00000468823.2:n.2374G>A (GLA)
ENST00000479445.2:n.1614-48G>A (GLA)
ENST00000480513.6:c.*308-48G>A (GLA)	ENSP00000497055.1:n.*308-48G>A
ENST00000486121.6:c.1045-48G>A (GLA)
ENST00000649178.1:c.1123-48G>A (GLA)	ENSP00000498186.1:n.1123-48G>A
ENST00000674127.1:c.1100-48G>A (GLA)	ENSP00000501044.1:n.1100-48G>A
ENST00000674142.1:n.1304-48G>A (GLA)
ENST00000675592.1:c.802-48G>A (GLA)	ENSP00000502239.1:n.802-48G>A
ENST00000675799.1:c.*525-48G>A (GLA)	ENSP00000502661.1:n.*525-48G>A
ENST00000675968.1:n.3871-48G>A (GLA)
ENST00000676156.1:c.964-48G>A (GLA)	ENSP00000501730.1:n.964-48G>A
ENST00000676372.1:c.1066-48G>A (GLA)	ENSP00000502805.1:n.1066-48G>A
ENST00000218516.3:c.1000-48G>A (GLA)	ENSP00000218516.3:n.1000-48G>A
ENST00000409170.3:c.300+2690C>T (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2690C>T
ENST00000409338.5:c.177+6325C>T (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6325C>T
ENST00000466414.1:n.326-48G>A (GLA)
ENST00000493905.6:c.*388-48G>A (GLA)	ENSP00000476935.1:n.*388-48G>A
NM_000169.2:c.1000-48G>A , LRG_672t1:c.1000-48G>A (GLA)	NP_000160.1:n.1000-48G>A
NM_001199973.1:c.408+2690C>T (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2690C>T
NM_001199974.1:c.285+6325C>T (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6325C>T
XR_938397.1:n.1085-48G>A (GLA)
XR_938397.2:n.1106-48G>A (GLA)
NM_001199973.2:c.300+2690C>T (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2690C>T
NM_001199974.2:c.177+6325C>T (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6325C>T
NM_000169.3:c.1000-48G>A (GLA) MANE Select	NP_000160.1:n.1000-48G>A
NR_164783.1:n.1079-48G>A (GLA)