Canonical Allele Identifier: CA315756
Gene: LIAS HGNC NCBI

Linked Data

ClinVar Variation Id: 206048
dbSNP Id: rs374709255

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39467546A>G , CM000666.2:g.39467546A>G GRCh38
NC_000004.11:g.39469166A>G , CM000666.1:g.39469166A>G GRCh37
NC_000004.10:g.39145561A>G NCBI36
NG_032111.1:g.13502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.328A>G ENSP00000261434.4:p.Thr110Ala
ENST00000340169.7:c.637A>G ENSP00000340676.2:p.Thr213Ala
ENST00000381846.2:c.608+2204A>G ENSP00000371270.1:p.=
ENST00000513731.6:c.247A>G ENSP00000425580.1:p.Thr83Ala
ENST00000638422.1:c.637A>G ENSP00000491001.1:p.Thr213Ala
ENST00000638430.1:n.334A>G
ENST00000638451.1:c.300-2473A>G ENSP00000491681.1:p.=
ENST00000638816.1:n.351A>G ENSP00000492482.1:p.=
ENST00000639422.1:c.422A>G ENSP00000491899.1:p.Tyr141Cys
ENST00000640349.1:c.523A>G ENSP00000491477.1:p.Thr175Ala
ENST00000640381.1:n.697A>G
ENST00000640672.1:n.368+2204A>G ENSP00000492203.1:p.=
ENST00000640689.1:c.*240A>G ENSP00000491591.1:p.=
ENST00000640888.2:c.637A>G MANE Select ENSP00000492260.1:p.Thr213Ala
ENST00000261434.7:c.637A>G ENSP00000261434.3:p.Thr213Ala
ENST00000340169.6:c.637A>G ENSP00000340676.2:p.Thr213Ala
ENST00000381846.1:c.608+2204A>G ENSP00000371270.1:p.=
ENST00000513731.5:c.247A>G ENSP00000425580.1:p.Thr83Ala
NM_001278590.1:c.608+2204A>G NP_001265519.1:p.=
NM_006859.3:c.637A>G NP_006850.2:p.Thr213Ala
NM_194451.2:c.637A>G NP_919433.1:p.Thr213Ala
XM_006713990.2:c.300-2473A>G XP_006714053.1:p.=
NM_001363700.1:c.328A>G NP_001350629.1:p.Thr110Ala
XM_006713990.3:c.300-2473A>G XP_006714053.1:p.=
XM_017007665.2:c.608+2204A>G XP_016863154.1:p.=
XR_001741096.2:n.725A>G
NM_001278590.2:c.608+2204A>G NP_001265519.1:p.=
NM_001363700.2:c.328A>G NP_001350629.1:p.Thr110Ala
NM_006859.4:c.637A>G MANE Select NP_006850.2:p.Thr213Ala
NM_194451.3:c.637A>G NP_919433.1:p.Thr213Ala