Canonical Allele Identifier: CA136020054
Gene: HLA-A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.29942953T>G
GRCh37 chr6:g.29910730T>G
Revel Score:
ENST00000396634 0.081
ENST00000376806 0.081
ENST00000376809 (MANE Select) 0.081
ENST00000355767 0.081
ENST00000376802 0.081
gnomAD v2:
6:29910730 T / G
gnomAD v3:
6:29942953 T / G
gnomAD v4:
chr6-29942953-T-G
Joint Max Group AF 0.0000016 (NFE)
Exomes Max Group AF 0.00000165 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29942953T>G , CM000668.2:g.29942953T>G GRCh38
NC_000006.11:g.29910730T>G , CM000668.1:g.29910730T>G GRCh37
NC_000006.10:g.30018709T>G NCBI36
NG_029217.2:g.5488T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000638375.2:c.270T>G ENSP00000492789.2:p.Asn90Lys
ENST00000706892.1:n.546T>G
ENST00000706893.1:c.270T>G ENSP00000516609.1:p.Asn90Lys
ENST00000706894.1:c.270T>G ENSP00000516610.1:p.Asn90Lys
ENST00000706895.1:n.546T>G
ENST00000706896.1:n.546T>G
ENST00000706897.1:n.546T>G
ENST00000706898.1:c.270T>G ENSP00000516611.1:p.Asn90Lys
ENST00000706899.1:n.546T>G
ENST00000706900.1:c.186T>G ENSP00000516617.1:p.Asn62Lys
ENST00000706901.1:c.270T>G ENSP00000516612.1:p.Asn90Lys
ENST00000706902.1:c.270T>G ENSP00000516613.1:p.Asn90Lys
ENST00000706903.1:c.270T>G ENSP00000516614.1:p.Asn90Lys
ENST00000706904.1:c.270T>G ENSP00000516615.1:p.Asn90Lys
ENST00000706905.1:c.270T>G ENSP00000516616.1:p.Asn90Lys
ENST00000376809.10:c.270T>G MANE Select ENSP00000366005.5:p.Asn90Lys
ENST00000638375.1:c.270T>G ENSP00000492789.1:p.Asn90Lys
ENST00000376802.2:c.270T>G ENSP00000365998.2:p.Asn90Lys
ENST00000376806.9:c.270T>G ENSP00000366002.5:p.Asn90Lys
ENST00000376809.9:c.270T>G ENSP00000366005.5:p.Asn90Lys
ENST00000396634.5:c.270T>G ENSP00000379873.1:p.Asn90Lys
ENST00000429656.1:n.115A>C
ENST00000461903.1:n.270T>G
ENST00000479320.5:n.270T>G
ENST00000495183.5:n.272T>G
ENST00000496081.5:n.177+99T>G
NM_002116.7:c.270T>G NP_002107.3:p.Asn90Lys
NM_002116.8:c.270T>G MANE Select NP_002107.3:p.Asn90Lys
Search 100 bp 5'
Search 100 bp 3'