Canonical Allele Identifier: CA1141581051
Community Standard Title: NM_006118.4(HAX1):c.256C= (p.Arg86=)
Gene: HAX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154273538C= , CM000663.2:g.154273538C= GRCh38
NC_000001.10:g.154246014C= , CM000663.1:g.154246014C= GRCh37
NC_000001.9:g.152512638C= NCBI36
NG_007369.1:g.5976C= , LRG_64:g.5976C=

Transcript Alleles

HGVS Amino-acid Change
NM_006118.4:c.256C= MANE Select NP_006109.2:p.Arg86=
ENST00000328703.12:c.256C= MANE Select ENSP00000329002.7:p.Arg86=
NM_001018837.1:c.112C= NP_001018238.1:p.Arg38=
NM_001018837.2:c.112C= NP_001018238.1:p.Arg38=
NM_006118.3:c.256C= , LRG_64t1:c.256C= NP_006109.2:p.Arg86=
ENST00000328703.11:c.256C= ENSP00000329002.7:p.Arg86=
ENST00000435087.1:c.252+4C= ENSP00000394920.1:n.252+4C=
ENST00000435087.2:c.252+4C= ENSP00000394920.2:n.252+4C=
ENST00000447768.6:c.252+4C= ENSP00000403848.2:n.252+4C=
ENST00000447768.7:c.252+4C= ENSP00000403848.2:n.252+4C=
ENST00000457918.6:c.112C= ENSP00000411448.2:p.Arg38=
ENST00000459914.2:n.357C=
ENST00000471326.5:n.671C=
ENST00000471326.6:n.932C=
ENST00000477780.2:n.343C=
ENST00000477780.3:n.343C=
ENST00000483970.6:c.256C= ENSP00000435088.1:p.Arg86=
ENST00000483970.7:c.256C= ENSP00000435088.1:p.Arg86=
ENST00000531435.5:n.351C=
ENST00000531435.6:n.426C=
ENST00000532105.1:c.-68-236C= ENSP00000433951.1:n.-68-236C=
ENST00000696929.1:c.256C= ENSP00000512978.1:p.Arg86=
ENST00000696931.1:n.357C=
ENST00000696932.1:c.256C= ENSP00000512979.1:p.Arg86=
ENST00000696933.1:c.256C= ENSP00000512980.1:p.Arg86=
ENST00000696938.1:c.256C= ENSP00000512983.1:p.Arg86=
ENST00000696941.1:c.178C= ENSP00000512986.1:p.Arg60=
ENST00000696944.1:c.178C= ENSP00000512989.1:p.Arg60=
ENST00000696945.1:c.178C= ENSP00000512990.1:p.Arg60=
ENST00000696965.1:c.178C= ENSP00000513004.1:p.Arg60=
ENST00000696966.1:c.174+4C= ENSP00000513005.1:n.174+4C=
ENST00000697592.1:c.178C= ENSP00000513356.1:p.Arg60=
ENST00000697830.1:c.178C= ENSP00000513452.1:p.Arg60=