Canonical Allele Identifier: CA2604843832
Gene: HHLA1 HGNC NCBI

Linked Data

dbSNP Id: rs2130892035
gnomAD v3: 8-132091004-C-G
gnomAD v4: 8-132091004-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132091004C>G , CM000670.2:g.132091004C>G GRCh38
NC_000008.10:g.133103251C>G , CM000670.1:g.133103251C>G GRCh37
NC_000008.9:g.133172433C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414222.2:c.449-1405G>C MANE Select ENSP00000388322.1:n.449-1405G>C
ENST00000673615.1:c.557-1405G>C ENSP00000500443.1:n.557-1405G>C
ENST00000414222.1:c.449-1405G>C ENSP00000388322.1:n.449-1405G>C
ENST00000434736.6:c.557-1405G>C ENSP00000407107.2:n.557-1405G>C
NM_001145095.1:c.449-1405G>C NP_001138567.1:n.449-1405G>C
NM_001145095.3:c.449-1405G>C MANE Select NP_001138567.1:n.449-1405G>C
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