Canonical Allele Identifier: CA1127208

Gene: HAX1

Linked Data

• ClinVar Variation Id: 476636
• ClinVar RCV Id: RCV000556301
• dbSNP Id: rs747374340
• ExAC: 1:154245213 A / C
• gnomAD v2: 1-154245213-A-C
• gnomAD v4: 1-154272737-A-C
• MyVariant Identifiers: chr1:g.154245213A>C (hg19) ; chr1:g.154272737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154272737A>C , CM000663.2:g.154272737A>C	GRCh38
NC_000001.10:g.154245213A>C , CM000663.1:g.154245213A>C	GRCh37
NC_000001.9:g.152511837A>C	NCBI36
NG_007369.1:g.5175A>C , LRG_64:g.5175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435087.2:c.14A>C	ENSP00000394920.2:p.Asp5Ala
ENST00000447768.7:c.14A>C	ENSP00000403848.2:p.Asp5Ala
ENST00000459914.2:n.115A>C
ENST00000471326.6:n.131A>C
ENST00000477780.3:n.101A>C
ENST00000483970.7:c.14A>C	ENSP00000435088.1:p.Asp5Ala
ENST00000531435.6:n.184A>C
ENST00000696929.1:c.14A>C	ENSP00000512978.1:p.Asp5Ala
ENST00000696931.1:n.115A>C
ENST00000696932.1:c.14A>C	ENSP00000512979.1:p.Asp5Ala
ENST00000696933.1:c.14A>C	ENSP00000512980.1:p.Asp5Ala
ENST00000696938.1:c.14A>C	ENSP00000512983.1:p.Asp5Ala
ENST00000696941.1:c.-42A>C	ENSP00000512986.1:n.-42A>C
ENST00000696944.1:c.-155A>C	ENSP00000512989.1:n.-155A>C
ENST00000696945.1:c.-167A>C	ENSP00000512990.1:n.-167A>C
ENST00000696965.1:c.-48A>C	ENSP00000513004.1:n.-48A>C
ENST00000696966.1:c.-167A>C	ENSP00000513005.1:n.-167A>C
ENST00000697592.1:c.-71A>C	ENSP00000513356.1:n.-71A>C
ENST00000697830.1:c.-26+34A>C	ENSP00000513452.1:n.-26+34A>C
ENST00000328703.12:c.14A>C MANE Select	ENSP00000329002.7:p.Asp5Ala
ENST00000328703.11:c.14A>C	ENSP00000329002.7:p.Asp5Ala
ENST00000435087.1:c.14A>C	ENSP00000394920.1:p.Asp5Ala
ENST00000447768.6:c.14A>C	ENSP00000403848.2:p.Asp5Ala
ENST00000457918.6:c.14A>C	ENSP00000411448.2:p.Asp5Ala
ENST00000477780.2:n.101A>C
ENST00000483970.6:c.14A>C	ENSP00000435088.1:p.Asp5Ala
ENST00000531435.5:n.109A>C
ENST00000532105.1:c.-108A>C	ENSP00000433951.1:n.-108A>C
NM_001018837.1:c.14A>C	NP_001018238.1:p.Asp5Ala
NM_006118.3:c.14A>C , LRG_64t1:c.14A>C	NP_006109.2:p.Asp5Ala
NM_001018837.2:c.14A>C	NP_001018238.1:p.Asp5Ala
NM_006118.4:c.14A>C MANE Select	NP_006109.2:p.Asp5Ala