Canonical Allele Identifier: CA16604617
Gene: LIAS HGNC NCBI

Linked Data

ClinVar Variation Id: 393112
dbSNP Id: rs1057524792

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39467617T>G , CM000666.2:g.39467617T>G GRCh38
NC_000004.11:g.39469237T>G , CM000666.1:g.39469237T>G GRCh37
NC_000004.10:g.39145632T>G NCBI36
NG_032111.1:g.13573T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.399T>G ENSP00000261434.4:p.His133Gln
ENST00000340169.7:c.708T>G ENSP00000340676.2:p.His236Gln
ENST00000381846.2:c.608+2275T>G ENSP00000371270.1:n.608+2275T>G
ENST00000513731.6:c.318T>G ENSP00000425580.1:p.His106Gln
ENST00000638422.1:c.708T>G ENSP00000491001.1:p.His236Gln
ENST00000638430.1:c.405T>G
ENST00000638451.1:c.300-2402T>G ENSP00000491681.1:n.300-2402T>G
ENST00000638816.1:c.422T>G ENSP00000492482.1:n.422T>G
ENST00000639422.1:c.*64T>G ENSP00000491899.1:n.*64T>G
ENST00000640349.1:c.594T>G ENSP00000491477.1:p.His198Gln
ENST00000640381.1:n.768T>G
ENST00000640672.1:c.368+2275T>G ENSP00000492203.1:n.368+2275T>G
ENST00000640689.1:c.*311T>G ENSP00000491591.1:n.*311T>G
ENST00000640888.2:c.708T>G MANE Select ENSP00000492260.1:p.His236Gln
ENST00000261434.7:c.708T>G ENSP00000261434.3:p.His236Gln
ENST00000340169.6:c.708T>G ENSP00000340676.2:p.His236Gln
ENST00000381846.1:c.608+2275T>G ENSP00000371270.1:n.608+2275T>G
ENST00000513731.5:c.318T>G ENSP00000425580.1:p.His106Gln
NM_001278590.1:c.608+2275T>G NP_001265519.1:n.608+2275T>G
NM_006859.3:c.708T>G NP_006850.2:p.His236Gln
NM_194451.2:c.708T>G NP_919433.1:p.His236Gln
XM_006713990.2:c.300-2402T>G XP_006714053.1:n.300-2402T>G
NM_001363700.1:c.399T>G NP_001350629.1:p.His133Gln
XM_006713990.3:c.300-2402T>G XP_006714053.1:n.300-2402T>G
XM_017007665.2:c.608+2275T>G XP_016863154.1:n.608+2275T>G
XR_001741096.2:n.796T>G
NM_001278590.2:c.608+2275T>G NP_001265519.1:n.608+2275T>G
NM_001363700.2:c.399T>G NP_001350629.1:p.His133Gln
NM_006859.4:c.708T>G MANE Select NP_006850.2:p.His236Gln
NM_194451.3:c.708T>G NP_919433.1:p.His236Gln