Canonical Allele Identifier: CA323503283

Gene: HMGXB4

Linked Data

• dbSNP Id: rs985110241
• gnomAD v2: 22-35663569-T-C
• gnomAD v3: 22-35267576-T-C
• gnomAD v4: 22-35267576-T-C
• MyVariant Identifiers: chr22:g.35663569T>C (hg19) ; chr22:g.35267576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35267576T>C , CM000684.2:g.35267576T>C	GRCh38
NC_000022.10:g.35663569T>C , CM000684.1:g.35663569T>C	GRCh37
NC_000022.9:g.33993569T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216106.6:c.1215+1973T>C MANE Select	ENSP00000216106.5:n.1215+1973T>C
ENST00000216106.5:c.1215+1973T>C	ENSP00000216106.5:n.1215+1973T>C
ENST00000418170.5:c.*1051+1973T>C	ENSP00000395532.1:n.*1051+1973T>C
NM_001003681.2:c.1215+1973T>C	NP_001003681.1:n.1215+1973T>C
NR_027780.1:n.1504+1973T>C
XM_006724100.2:c.1344+1973T>C	XP_006724163.1:n.1344+1973T>C
XM_006724101.2:c.1344+1973T>C	XP_006724164.1:n.1344+1973T>C
XM_006724102.1:c.888+1973T>C	XP_006724165.1:n.888+1973T>C
XM_011529817.1:c.1215+1973T>C	XP_011528119.1:n.1215+1973T>C
NM_001362972.1:c.888+1973T>C	NP_001349901.1:n.888+1973T>C
XM_006724100.4:c.1344+1973T>C	XP_006724163.1:n.1344+1973T>C
XM_006724101.4:c.1344+1973T>C	XP_006724164.1:n.1344+1973T>C
XM_006724102.2:c.888+1973T>C	XP_006724165.1:n.888+1973T>C
NM_001003681.3:c.1215+1973T>C MANE Select	NP_001003681.1:n.1215+1973T>C
NM_001362972.2:c.888+1973T>C	NP_001349901.1:n.888+1973T>C
NR_027780.2:n.1463+1973T>C