Canonical Allele Identifier: CA847613729
Gene: HHLA1 HGNC NCBI

Linked Data

dbSNP Id: rs1478369436
gnomAD v3: 8-132090869-C-T
gnomAD v4: 8-132090869-C-T
MyVariant Identifiers: chr8:g.133103116C>T (hg19) chr8:g.132090869C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132090869C>T , CM000670.2:g.132090869C>T GRCh38
NC_000008.10:g.133103116C>T , CM000670.1:g.133103116C>T GRCh37
NC_000008.9:g.133172298C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414222.2:c.449-1270G>A MANE Select ENSP00000388322.1:n.449-1270G>A
ENST00000673615.1:c.557-1270G>A ENSP00000500443.1:n.557-1270G>A
ENST00000414222.1:c.449-1270G>A ENSP00000388322.1:n.449-1270G>A
ENST00000434736.6:c.557-1270G>A ENSP00000407107.2:n.557-1270G>A
NM_001145095.1:c.449-1270G>A NP_001138567.1:n.449-1270G>A
NM_001145095.3:c.449-1270G>A MANE Select NP_001138567.1:n.449-1270G>A
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