Canonical Allele Identifier: CA413919970
Community Standard Title: NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397933G>A , CM000685.2:g.101397933G>A GRCh38
NC_000023.10:g.100652921G>A , CM000685.1:g.100652921G>A GRCh37
NC_000023.9:g.100539577G>A NCBI36
NG_007119.1:g.15031C>T , LRG_672:g.15031C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1166C>T (GLA) MANE Select NP_000160.1:p.Pro389Leu
ENST00000218516.4:c.1166C>T (GLA) MANE Select ENSP00000218516.4:p.Pro389Leu
NM_000169.2:c.1166C>T , LRG_672t1:c.1166C>T (GLA) NP_000160.1:p.Pro389Leu
NM_001199973.1:c.408+2476G>A (RPL36A-HNRNPH2) NP_001186902.1:n.408+2476G>A
NM_001199973.2:c.300+2476G>A (RPL36A-HNRNPH2) NP_001186902.2:n.300+2476G>A
NM_001199974.1:c.285+6111G>A (RPL36A-HNRNPH2) NP_001186903.1:n.285+6111G>A
NM_001199974.2:c.177+6111G>A (RPL36A-HNRNPH2) NP_001186903.2:n.177+6111G>A
NR_164783.1:n.1245C>T (GLA)
ENST00000218516.3:c.1166C>T (GLA) ENSP00000218516.3:p.Pro389Leu
ENST00000409170.3:c.300+2476G>A (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2476G>A
ENST00000409338.5:c.177+6111G>A (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6111G>A
ENST00000466414.1:n.492C>T (GLA)
ENST00000466414.2:n.1302C>T (GLA)
ENST00000468823.2:n.2588C>T (GLA)
ENST00000479445.2:n.1780C>T (GLA)
ENST00000493905.6:c.*554C>T (GLA) ENSP00000476935.1:n.*554C>T
ENST00000649178.1:c.1289C>T (GLA) ENSP00000498186.1:p.Pro430Leu
ENST00000674127.1:c.1266C>T (GLA) ENSP00000501044.1:n.1266C>T
ENST00000674127.2:c.*669C>T (GLA) ENSP00000501044.2:n.*669C>T
ENST00000674142.1:n.1421+49C>T (GLA)
ENST00000675592.1:c.968C>T (GLA) ENSP00000502239.1:p.Pro323Leu
ENST00000675799.1:c.*691C>T (GLA) ENSP00000502661.1:n.*691C>T
ENST00000675968.1:n.4037C>T (GLA)
ENST00000676156.1:c.1130C>T (GLA) ENSP00000501730.1:p.Pro377Leu
ENST00000676372.1:c.1232C>T (GLA) ENSP00000502805.1:n.1232C>T
ENST00000710365.1:c.1241C>T (GLA) ENSP00000518234.1:p.Pro414Leu
XR_938397.1:n.1251C>T (GLA)
XR_938397.2:n.1272C>T (GLA)