Canonical Allele Identifier: CA289208635
Gene: ANKRD13B HGNC NCBI
GIT1 HGNC NCBI

Linked Data

dbSNP Id: rs75293632
gnomAD v2: 17-27917707-A-G
gnomAD v3: 17-29590689-A-G
gnomAD v4: 17-29590689-A-G
MyVariant Identifiers: chr17:g.27917707A>G (hg19) chr17:g.29590689A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29590689A>G , CM000679.2:g.29590689A>G GRCh38
NC_000017.10:g.27917707A>G , CM000679.1:g.27917707A>G GRCh37
NC_000017.9:g.24941833A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000487527.5:n.80+827A>G (ANKRD13B)
ENST00000583413.4:c.88+3253T>C (GIT1) ENSP00000466824.1:n.88+3253T>C
ENST00000583728.5:c.-283+827A>G (ANKRD13B) ENSP00000467078.1:n.-283+827A>G
XM_017024174.2:c.-283+827A>G (ANKRD13B) XP_016879663.1:n.-283+827A>G
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