Canonical Allele Identifier: CA209714
Gene: ALX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210133
ClinVar RCV Id: RCV000195110 RCV000883228 RCV003927755
dbSNP Id: rs145944049
ExAC: 12:85674229 C / T
gnomAD v2: 12-85674229-C-T
gnomAD v3: 12-85280451-C-T
gnomAD v4: 12-85280451-C-T
MyVariant Identifiers: chr12:g.85674229C>T (hg19) chr12:g.85280451C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.85280451C>T , CM000674.2:g.85280451C>T GRCh38
NC_000012.11:g.85674229C>T , CM000674.1:g.85674229C>T GRCh37
NC_000012.10:g.84198360C>T NCBI36
NG_023202.1:g.5194C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000316824.4:c.190C>T MANE Select ENSP00000315417.3:p.Arg64Cys
ENST00000316824.3:c.190C>T ENSP00000315417.3:p.Arg64Cys
NM_006982.2:c.190C>T NP_008913.2:p.Arg64Cys
XM_005269165.3:c.190C>T XP_005269222.1:p.Arg64Cys
XM_011538783.1:c.-60+508C>T XP_011537085.1:n.-60+508C>T
NM_006982.3:c.190C>T MANE Select NP_008913.2:p.Arg64Cys
Search 100 bp 5'
Search 100 bp 3'