Canonical Allele Identifier: CA379888411
Community Standard Title: NM_003476.5(CSRP3):c.131T>A (p.Leu44His)
Gene: CSRP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19188286A>T , CM000673.2:g.19188286A>T GRCh38
NC_000011.9:g.19209833A>T , CM000673.1:g.19209833A>T GRCh37
NC_000011.8:g.19166409A>T NCBI36
NG_011932.2:g.27288T>A , LRG_440:g.27288T>A

Transcript Alleles

HGVS Amino-acid Change
NM_003476.5:c.131T>A MANE Select NP_003467.1:p.Leu44His
ENST00000265968.9:c.131T>A MANE Select ENSP00000265968.3:p.Leu44His
NM_001369404.1:c.113-1938T>A NP_001356333.1:n.113-1938T>A
NM_003476.4:c.131T>A NP_003467.1:p.Leu44His
ENST00000265968.7:c.131T>A ENSP00000265968.3:p.Leu44His
ENST00000533783.1:c.131T>A ENSP00000431813.1:p.Leu44His
ENST00000533783.2:c.131T>A ENSP00000431813.1:p.Leu44His
ENST00000647990.1:c.131T>A ENSP00000496798.1:p.Leu44His
ENST00000648719.1:c.113-3241T>A ENSP00000497633.1:n.113-3241T>A
ENST00000649235.1:c.131T>A ENSP00000497388.1:p.Leu44His
ENST00000649842.1:c.113-1938T>A ENSP00000497531.1:n.113-1938T>A
XM_024448698.1:c.113-1938T>A XP_024304466.1:n.113-1938T>A