Canonical Allele Identifier: CA1127288
Community Standard Title: NM_006118.4(HAX1):c.207A>T (p.Pro69=)
Gene: HAX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154273489A>T , CM000663.2:g.154273489A>T GRCh38
NC_000001.10:g.154245965A>T , CM000663.1:g.154245965A>T GRCh37
NC_000001.9:g.152512589A>T NCBI36
NG_007369.1:g.5927A>T , LRG_64:g.5927A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006118.4:c.207A>T MANE Select NP_006109.2:p.Pro69=
ENST00000328703.12:c.207A>T MANE Select ENSP00000329002.7:p.Pro69=
NM_001018837.1:c.63A>T NP_001018238.1:p.Pro21=
NM_001018837.2:c.63A>T NP_001018238.1:p.Pro21=
NM_006118.3:c.207A>T , LRG_64t1:c.207A>T NP_006109.2:p.Pro69=
ENST00000328703.11:c.207A>T ENSP00000329002.7:p.Pro69=
ENST00000435087.1:c.207A>T ENSP00000394920.1:p.Pro69=
ENST00000435087.2:c.207A>T ENSP00000394920.2:p.Pro69=
ENST00000447768.6:c.207A>T ENSP00000403848.2:p.Pro69=
ENST00000447768.7:c.207A>T ENSP00000403848.2:p.Pro69=
ENST00000457918.6:c.63A>T ENSP00000411448.2:p.Pro21=
ENST00000459914.2:n.308A>T
ENST00000471326.5:n.622A>T
ENST00000471326.6:n.883A>T
ENST00000477780.2:n.294A>T
ENST00000477780.3:n.294A>T
ENST00000483970.6:c.207A>T ENSP00000435088.1:p.Pro69=
ENST00000483970.7:c.207A>T ENSP00000435088.1:p.Pro69=
ENST00000531435.5:n.302A>T
ENST00000531435.6:n.377A>T
ENST00000532105.1:c.-68-285A>T ENSP00000433951.1:n.-68-285A>T
ENST00000696929.1:c.207A>T ENSP00000512978.1:p.Pro69=
ENST00000696931.1:n.308A>T
ENST00000696932.1:c.207A>T ENSP00000512979.1:p.Pro69=
ENST00000696933.1:c.207A>T ENSP00000512980.1:p.Pro69=
ENST00000696938.1:c.207A>T ENSP00000512983.1:p.Pro69=
ENST00000696941.1:c.129A>T ENSP00000512986.1:p.Pro43=
ENST00000696944.1:c.129A>T ENSP00000512989.1:p.Pro43=
ENST00000696945.1:c.129A>T ENSP00000512990.1:p.Pro43=
ENST00000696965.1:c.129A>T ENSP00000513004.1:p.Pro43=
ENST00000696966.1:c.129A>T ENSP00000513005.1:p.Pro43=
ENST00000697592.1:c.129A>T ENSP00000513356.1:p.Pro43=
ENST00000697830.1:c.129A>T ENSP00000513452.1:p.Pro43=