Canonical Allele Identifier: CA413921070
Community Standard Title: NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398051C>T , CM000685.2:g.101398051C>T GRCh38
NC_000023.10:g.100653039C>T , CM000685.1:g.100653039C>T GRCh37
NC_000023.9:g.100539695C>T NCBI36
NG_007119.1:g.14913G>A , LRG_672:g.14913G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1048G>A (GLA) MANE Select NP_000160.1:p.Ala350Thr
ENST00000218516.4:c.1048G>A (GLA) MANE Select ENSP00000218516.4:p.Ala350Thr
NM_000169.2:c.1048G>A , LRG_672t1:c.1048G>A (GLA) NP_000160.1:p.Ala350Thr
NM_001199973.1:c.408+2594C>T (RPL36A-HNRNPH2) NP_001186902.1:n.408+2594C>T
NM_001199973.2:c.300+2594C>T (RPL36A-HNRNPH2) NP_001186902.2:n.300+2594C>T
NM_001199974.1:c.285+6229C>T (RPL36A-HNRNPH2) NP_001186903.1:n.285+6229C>T
NM_001199974.2:c.177+6229C>T (RPL36A-HNRNPH2) NP_001186903.2:n.177+6229C>T
NR_164783.1:n.1127G>A (GLA)
ENST00000218516.3:c.1048G>A (GLA) ENSP00000218516.3:p.Ala350Thr
ENST00000409170.3:c.300+2594C>T (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2594C>T
ENST00000409338.5:c.177+6229C>T (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6229C>T
ENST00000466414.1:n.374G>A (GLA)
ENST00000466414.2:n.1184G>A (GLA)
ENST00000468823.2:n.2470G>A (GLA)
ENST00000479445.2:n.1662G>A (GLA)
ENST00000480513.6:c.*356G>A (GLA) ENSP00000497055.1:n.*356G>A
ENST00000486121.6:c.1093G>A (GLA)
ENST00000486121.7:c.*494G>A (GLA) ENSP00000501124.2:n.*494G>A
ENST00000493905.6:c.*436G>A (GLA) ENSP00000476935.1:n.*436G>A
ENST00000649178.1:c.1171G>A (GLA) ENSP00000498186.1:p.Ala391Thr
ENST00000674127.1:c.1148G>A (GLA) ENSP00000501044.1:n.1148G>A
ENST00000674127.2:c.*551G>A (GLA) ENSP00000501044.2:n.*551G>A
ENST00000674142.1:n.1352G>A (GLA)
ENST00000675592.1:c.850G>A (GLA) ENSP00000502239.1:p.Ala284Thr
ENST00000675799.1:c.*573G>A (GLA) ENSP00000502661.1:n.*573G>A
ENST00000675968.1:n.3919G>A (GLA)
ENST00000676156.1:c.1012G>A (GLA) ENSP00000501730.1:p.Ala338Thr
ENST00000676372.1:c.1114G>A (GLA) ENSP00000502805.1:n.1114G>A
ENST00000710365.1:c.1123G>A (GLA) ENSP00000518234.1:p.Ala375Thr
XR_938397.1:n.1133G>A (GLA)
XR_938397.2:n.1154G>A (GLA)