Canonical Allele Identifier: CA366870101
Gene: ARL4A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.12688829T>C
GRCh37 chr7:g.12728454T>C
Revel Score:
ENST00000396662 0.150
ENST00000356797 0.150
ENST00000396664 0.150
ENST00000396663 0.150
ENST00000404894 0.150
gnomAD v3:
7:12688829 T / C
gnomAD v4:
chr7-12688829-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
2679145
ClinVar RCV:
RCV004283877
ClinVar Variation:
2508324
dbSNP:
1784570699
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.12688829T>C , CM000669.2:g.12688829T>C GRCh38
NC_000007.13:g.12728454T>C , CM000669.1:g.12728454T>C GRCh37
NC_000007.12:g.12694979T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651779.1:c.575T>C MANE Select ENSP00000498350.1:p.Met192Thr
ENST00000356797.7:c.575T>C ENSP00000349250.3:p.Met192Thr
ENST00000396662.5:c.575T>C ENSP00000379897.1:p.Met192Thr
ENST00000396663.2:c.575T>C ENSP00000379898.1:p.Met192Thr
ENST00000396664.2:c.575T>C ENSP00000379899.2:p.Met192Thr
ENST00000404894.1:c.575T>C ENSP00000385236.1:p.Met192Thr
NM_001037164.2:c.575T>C NP_001032241.1:p.Met192Thr
NM_001195396.1:c.575T>C NP_001182325.1:p.Met192Thr
NM_005738.4:c.575T>C NP_005729.1:p.Met192Thr
NM_212460.3:c.575T>C NP_997625.1:p.Met192Thr
NM_005738.5:c.575T>C MANE Select NP_005729.1:p.Met192Thr
NM_001037164.3:c.575T>C NP_001032241.1:p.Met192Thr
NM_001195396.2:c.575T>C NP_001182325.1:p.Met192Thr
NM_212460.4:c.575T>C NP_997625.1:p.Met192Thr
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