Canonical Allele Identifier: CA10607880

Gene: HAX1

Linked Data

• ClinVar Variation Id: 292702
• ClinVar RCV Id: RCV000326888
• dbSNP Id: rs578086387
• gnomAD v2: 1-154245148-G-T
• gnomAD v3: 1-154272672-G-T
• gnomAD v4: 1-154272672-G-T
• COSMIC: COSN20090364
• MyVariant Identifiers: chr1:g.154245148G>T (hg19) ; chr1:g.154272672G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154272672G>T , CM000663.2:g.154272672G>T	GRCh38
NC_000001.10:g.154245148G>T , CM000663.1:g.154245148G>T	GRCh37
NC_000001.9:g.152511772G>T	NCBI36
NG_007369.1:g.5110G>T , LRG_64:g.5110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435087.2:c.-52G>T	ENSP00000394920.2:n.-52G>T
ENST00000447768.7:c.-52G>T	ENSP00000403848.2:n.-52G>T
ENST00000459914.2:n.50G>T
ENST00000471326.6:n.66G>T
ENST00000477780.3:n.36G>T
ENST00000483970.7:c.-52G>T	ENSP00000435088.1:n.-52G>T
ENST00000531435.6:n.119G>T
ENST00000696929.1:c.-52G>T	ENSP00000512978.1:n.-52G>T
ENST00000696931.1:n.50G>T
ENST00000696932.1:c.-52G>T	ENSP00000512979.1:n.-52G>T
ENST00000696933.1:c.-52G>T	ENSP00000512980.1:n.-52G>T
ENST00000696938.1:c.-52G>T	ENSP00000512983.1:n.-52G>T
ENST00000696941.1:c.-107G>T	ENSP00000512986.1:n.-107G>T
ENST00000696945.1:c.-232G>T	ENSP00000512990.1:n.-232G>T
ENST00000696965.1:c.-113G>T	ENSP00000513004.1:n.-113G>T
ENST00000696966.1:c.-232G>T	ENSP00000513005.1:n.-232G>T
ENST00000697592.1:c.-136G>T	ENSP00000513356.1:n.-136G>T
ENST00000697830.1:c.-57G>T	ENSP00000513452.1:n.-57G>T
ENST00000328703.12:c.-52G>T MANE Select	ENSP00000329002.7:n.-52G>T
ENST00000328703.11:c.-52G>T	ENSP00000329002.7:n.-52G>T
ENST00000435087.1:c.-52G>T	ENSP00000394920.1:n.-52G>T
ENST00000447768.6:c.-52G>T	ENSP00000403848.2:n.-52G>T
ENST00000457918.6:c.-52G>T	ENSP00000411448.2:n.-52G>T
ENST00000477780.2:n.36G>T
ENST00000483970.6:c.-52G>T	ENSP00000435088.1:n.-52G>T
ENST00000531435.5:n.44G>T
ENST00000532105.1:c.-173G>T	ENSP00000433951.1:n.-173G>T
NM_001018837.1:c.-52G>T	NP_001018238.1:n.-52G>T
NM_006118.3:c.-52G>T , LRG_64t1:c.-52G>T	NP_006109.2:n.-52G>T
NM_001018837.2:c.-52G>T	NP_001018238.1:n.-52G>T
NM_006118.4:c.-52G>T MANE Select	NP_006109.2:n.-52G>T