Canonical Allele Identifier: CA3747728
Gene: HLA-DMA HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32949767C>T
GRCh37 chr6:g.32917544C>T
Revel Score:
ENST00000395305 0.010
ENST00000395303 0.010
ENST00000374843 (MANE Select) 0.010
ENST00000456800 0.010
ENST00000422832 0.010
gnomAD v2:
6:32917544 C / T
gnomAD v3:
6:32949767 C / T
gnomAD v4:
chr6-32949767-C-T
Joint Max Group AF 0.21685315 (SAS)
Genomes Max Group AF 0.24141745 (EAS)
Exomes Max Group AF 0.21652799 (SAS)
dbSNP:
1063478
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32949767C>T , CM000668.2:g.32949767C>T GRCh38
NC_000006.11:g.32917544C>T , CM000668.1:g.32917544C>T GRCh37
NC_000006.10:g.33025522C>T NCBI36
NG_012006.1:g.8356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374843.9:c.496G>A MANE Select ENSP00000363976.4:p.Val166Ile
ENST00000374843.8:c.496G>A ENSP00000363976.4:p.Val166Ile
ENST00000395303.7:c.394G>A ENSP00000378714.3:p.Val132Ile
ENST00000395305.7:c.211G>A ENSP00000378716.3:p.Val71Ile
ENST00000422832.1:c.397G>A ENSP00000403122.1:p.Val133Ile
ENST00000429234.1:c.88+3182G>A ENSP00000412457.1:n.88+3182G>A
ENST00000456800.1:c.586G>A ENSP00000409668.1:p.Val196Ile
ENST00000464392.1:n.423G>A
ENST00000477541.1:n.1197G>A
NM_006120.3:c.496G>A NP_006111.2:p.Val166Ile
NM_006120.4:c.496G>A MANE Select NP_006111.2:p.Val166Ile
Search 100 bp 5'
Search 100 bp 3'