Canonical Allele Identifier: CA1219517298
Gene: INAVA HGNC NCBI

Linked Data

dbSNP Id: rs1653797072

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200912521G>T , CM000663.2:g.200912521G>T GRCh38
NC_000001.10:g.200881649G>T , CM000663.1:g.200881649G>T GRCh37
NC_000001.9:g.199148272G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000413687.3:c.1644+384G>T MANE Select ENSP00000392105.2:n.1644+384G>T
ENST00000367342.8:c.1899+384G>T ENSP00000356311.4:n.1899+384G>T
ENST00000413687.2:c.1644+384G>T ENSP00000392105.2:n.1644+384G>T
ENST00000465162.1:n.179+384G>T
NM_001142569.2:c.1644+384G>T NP_001136041.1:n.1644+384G>T
NM_018265.3:c.1941+384G>T NP_060735.3:n.1941+384G>T
XM_011509754.1:c.1644+384G>T XP_011508056.1:n.1644+384G>T
XM_011509755.1:c.1644+384G>T XP_011508057.1:n.1644+384G>T
XM_011509754.2:c.1644+384G>T XP_011508056.1:n.1644+384G>T
NM_001142569.3:c.1644+384G>T MANE Select NP_001136041.1:n.1644+384G>T
NM_001367289.1:c.1584+444G>T NP_001354218.1:n.1584+444G>T
NM_001367290.1:c.1107+384G>T NP_001354219.1:n.1107+384G>T
NM_018265.4:c.1899+384G>T NP_060735.4:n.1899+384G>T