Canonical Allele Identifier: CA185436939
Gene: HHLA1 HGNC NCBI

Linked Data

dbSNP Id: rs138080792
gnomAD v2: 8-133103267-C-A
gnomAD v3: 8-132091020-C-A
gnomAD v4: 8-132091020-C-A
MyVariant Identifiers: chr8:g.133103267C>A (hg19) chr8:g.132091020C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132091020C>A , CM000670.2:g.132091020C>A GRCh38
NC_000008.10:g.133103267C>A , CM000670.1:g.133103267C>A GRCh37
NC_000008.9:g.133172449C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414222.2:c.449-1421G>T MANE Select ENSP00000388322.1:n.449-1421G>T
ENST00000673615.1:c.557-1421G>T ENSP00000500443.1:n.557-1421G>T
ENST00000414222.1:c.449-1421G>T ENSP00000388322.1:n.449-1421G>T
ENST00000434736.6:c.557-1421G>T ENSP00000407107.2:n.557-1421G>T
NM_001145095.1:c.449-1421G>T NP_001138567.1:n.449-1421G>T
NM_001145095.3:c.449-1421G>T MANE Select NP_001138567.1:n.449-1421G>T
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