Canonical Allele Identifier: CA438945641
Gene: LIAS HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.39469168T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39467548T>G , CM000666.2:g.39467548T>G GRCh38
NC_000004.11:g.39469168T>G , CM000666.1:g.39469168T>G GRCh37
NC_000004.10:g.39145563T>G NCBI36
NG_032111.1:g.13504T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.330T>G ENSP00000261434.4:p.Thr110=
ENST00000340169.7:c.639T>G ENSP00000340676.2:p.Thr213=
ENST00000381846.2:c.608+2206T>G ENSP00000371270.1:n.608+2206T>G
ENST00000513731.6:c.249T>G ENSP00000425580.1:p.Thr83=
ENST00000638422.1:c.639T>G ENSP00000491001.1:p.Thr213=
ENST00000638430.1:c.336T>G
ENST00000638451.1:c.300-2471T>G ENSP00000491681.1:n.300-2471T>G
ENST00000638816.1:c.353T>G ENSP00000492482.1:n.353T>G
ENST00000639422.1:c.424T>G ENSP00000491899.1:p.Ser142Ala
ENST00000640349.1:c.525T>G ENSP00000491477.1:p.Thr175=
ENST00000640381.1:n.699T>G
ENST00000640672.1:c.368+2206T>G ENSP00000492203.1:n.368+2206T>G
ENST00000640689.1:c.*242T>G ENSP00000491591.1:n.*242T>G
ENST00000640888.2:c.639T>G MANE Select ENSP00000492260.1:p.Thr213=
ENST00000261434.7:c.639T>G ENSP00000261434.3:p.Thr213=
ENST00000340169.6:c.639T>G ENSP00000340676.2:p.Thr213=
ENST00000381846.1:c.608+2206T>G ENSP00000371270.1:n.608+2206T>G
ENST00000513731.5:c.249T>G ENSP00000425580.1:p.Thr83=
NM_001278590.1:c.608+2206T>G NP_001265519.1:n.608+2206T>G
NM_006859.3:c.639T>G NP_006850.2:p.Thr213=
NM_194451.2:c.639T>G NP_919433.1:p.Thr213=
XM_006713990.2:c.300-2471T>G XP_006714053.1:n.300-2471T>G
NM_001363700.1:c.330T>G NP_001350629.1:p.Thr110=
XM_006713990.3:c.300-2471T>G XP_006714053.1:n.300-2471T>G
XM_017007665.2:c.608+2206T>G XP_016863154.1:n.608+2206T>G
XR_001741096.2:n.727T>G
NM_001278590.2:c.608+2206T>G NP_001265519.1:n.608+2206T>G
NM_001363700.2:c.330T>G NP_001350629.1:p.Thr110=
NM_006859.4:c.639T>G MANE Select NP_006850.2:p.Thr213=
NM_194451.3:c.639T>G NP_919433.1:p.Thr213=