Canonical Allele Identifier: CA356664910
Gene: LIAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39467553A>T , CM000666.2:g.39467553A>T GRCh38
NC_000004.11:g.39469173A>T , CM000666.1:g.39469173A>T GRCh37
NC_000004.10:g.39145568A>T NCBI36
NG_032111.1:g.13509A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.335A>T ENSP00000261434.4:p.Asp112Val
ENST00000340169.7:c.644A>T ENSP00000340676.2:p.Asp215Val
ENST00000381846.2:c.608+2211A>T ENSP00000371270.1:n.608+2211A>T
ENST00000513731.6:c.254A>T ENSP00000425580.1:p.Asp85Val
ENST00000638422.1:c.644A>T ENSP00000491001.1:p.Asp215Val
ENST00000638430.1:c.341A>T
ENST00000638451.1:c.300-2466A>T ENSP00000491681.1:n.300-2466A>T
ENST00000638816.1:c.358A>T ENSP00000492482.1:n.358A>T
ENST00000639422.1:c.429A>T ENSP00000491899.1:p.Ter143Cys
ENST00000640349.1:c.530A>T ENSP00000491477.1:p.Asp177Val
ENST00000640381.1:n.704A>T
ENST00000640672.1:c.368+2211A>T ENSP00000492203.1:n.368+2211A>T
ENST00000640689.1:c.*247A>T ENSP00000491591.1:n.*247A>T
ENST00000640888.2:c.644A>T MANE Select ENSP00000492260.1:p.Asp215Val
ENST00000261434.7:c.644A>T ENSP00000261434.3:p.Asp215Val
ENST00000340169.6:c.644A>T ENSP00000340676.2:p.Asp215Val
ENST00000381846.1:c.608+2211A>T ENSP00000371270.1:n.608+2211A>T
ENST00000513731.5:c.254A>T ENSP00000425580.1:p.Asp85Val
NM_001278590.1:c.608+2211A>T NP_001265519.1:n.608+2211A>T
NM_006859.3:c.644A>T NP_006850.2:p.Asp215Val
NM_194451.2:c.644A>T NP_919433.1:p.Asp215Val
XM_006713990.2:c.300-2466A>T XP_006714053.1:n.300-2466A>T
NM_001363700.1:c.335A>T NP_001350629.1:p.Asp112Val
XM_006713990.3:c.300-2466A>T XP_006714053.1:n.300-2466A>T
XM_017007665.2:c.608+2211A>T XP_016863154.1:n.608+2211A>T
XR_001741096.2:n.732A>T
NM_001278590.2:c.608+2211A>T NP_001265519.1:n.608+2211A>T
NM_001363700.2:c.335A>T NP_001350629.1:p.Asp112Val
NM_006859.4:c.644A>T MANE Select NP_006850.2:p.Asp215Val
NM_194451.3:c.644A>T NP_919433.1:p.Asp215Val