Canonical Allele Identifier: CA438944817
Gene: LIAS HGNC NCBI

Linked Data

dbSNP Id: rs1744459643
gnomAD v4: 4-39460870-A-T
MyVariant Identifiers: chr4:g.39462490A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39460870A>T , CM000666.2:g.39460870A>T GRCh38
NC_000004.11:g.39462490A>T , CM000666.1:g.39462490A>T GRCh37
NC_000004.10:g.39138885A>T NCBI36
NG_032111.1:g.6826A>T
NG_052985.1:g.3079T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.126A>T ENSP00000261434.4:p.Gly42=
ENST00000340169.7:c.126A>T ENSP00000340676.2:p.Gly42=
ENST00000381846.2:c.126A>T ENSP00000371270.1:p.Gly42=
ENST00000513731.6:c.126A>T ENSP00000425580.1:p.Gly42=
ENST00000638422.1:c.126A>T ENSP00000491001.1:p.Gly42=
ENST00000638451.1:c.126A>T ENSP00000491681.1:p.Gly42=
ENST00000638837.1:c.126A>T ENSP00000492038.1:p.Gly42=
ENST00000639422.1:c.126A>T ENSP00000491899.1:p.Gly42=
ENST00000640349.1:c.126A>T ENSP00000491477.1:p.Gly42=
ENST00000640381.1:n.186A>T
ENST00000640489.1:c.*25A>T ENSP00000492540.1:n.*25A>T
ENST00000640689.1:c.126A>T ENSP00000491591.1:p.Gly42=
ENST00000640888.2:c.126A>T MANE Select ENSP00000492260.1:p.Gly42=
ENST00000261434.7:c.126A>T ENSP00000261434.3:p.Gly42=
ENST00000340169.6:c.126A>T ENSP00000340676.2:p.Gly42=
ENST00000381846.1:c.126A>T ENSP00000371270.1:p.Gly42=
ENST00000424936.6:n.186A>T
ENST00000509519.5:n.199A>T
ENST00000513731.5:c.126A>T ENSP00000425580.1:p.Gly42=
ENST00000515061.1:n.124A>T
NM_001278590.1:c.126A>T NP_001265519.1:p.Gly42=
NM_001278591.1:c.126A>T NP_001265520.1:p.Gly42=
NM_001278592.1:c.126A>T NP_001265521.1:p.Gly42=
NM_006859.3:c.126A>T NP_006850.2:p.Gly42=
NM_194451.2:c.126A>T NP_919433.1:p.Gly42=
XM_006713990.2:c.126A>T XP_006714053.1:p.Gly42=
NM_001363700.1:c.126A>T NP_001350629.1:p.Gly42=
XM_006713990.3:c.126A>T XP_006714053.1:p.Gly42=
XM_017007665.2:c.126A>T XP_016863154.1:p.Gly42=
XR_001741096.2:n.214A>T
NM_001278590.2:c.126A>T NP_001265519.1:p.Gly42=
NM_001363700.2:c.126A>T NP_001350629.1:p.Gly42=
NM_006859.4:c.126A>T MANE Select NP_006850.2:p.Gly42=
NM_194451.3:c.126A>T NP_919433.1:p.Gly42=
NM_001278591.2:c.126A>T NP_001265520.1:p.Gly42=
NM_001278592.2:c.126A>T NP_001265521.1:p.Gly42=