Canonical Allele Identifier: CA356664898
Gene: LIAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39467547C>G , CM000666.2:g.39467547C>G GRCh38
NC_000004.11:g.39469167C>G , CM000666.1:g.39469167C>G GRCh37
NC_000004.10:g.39145562C>G NCBI36
NG_032111.1:g.13503C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.329C>G ENSP00000261434.4:p.Thr110Ser
ENST00000340169.7:c.638C>G ENSP00000340676.2:p.Thr213Ser
ENST00000381846.2:c.608+2205C>G ENSP00000371270.1:n.608+2205C>G
ENST00000513731.6:c.248C>G ENSP00000425580.1:p.Thr83Ser
ENST00000638422.1:c.638C>G ENSP00000491001.1:p.Thr213Ser
ENST00000638430.1:c.335C>G
ENST00000638451.1:c.300-2472C>G ENSP00000491681.1:n.300-2472C>G
ENST00000638816.1:c.352C>G ENSP00000492482.1:n.352C>G
ENST00000639422.1:c.423C>G ENSP00000491899.1:p.Tyr141Ter
ENST00000640349.1:c.524C>G ENSP00000491477.1:p.Thr175Ser
ENST00000640381.1:n.698C>G
ENST00000640672.1:c.368+2205C>G ENSP00000492203.1:n.368+2205C>G
ENST00000640689.1:c.*241C>G ENSP00000491591.1:n.*241C>G
ENST00000640888.2:c.638C>G MANE Select ENSP00000492260.1:p.Thr213Ser
ENST00000261434.7:c.638C>G ENSP00000261434.3:p.Thr213Ser
ENST00000340169.6:c.638C>G ENSP00000340676.2:p.Thr213Ser
ENST00000381846.1:c.608+2205C>G ENSP00000371270.1:n.608+2205C>G
ENST00000513731.5:c.248C>G ENSP00000425580.1:p.Thr83Ser
NM_001278590.1:c.608+2205C>G NP_001265519.1:n.608+2205C>G
NM_006859.3:c.638C>G NP_006850.2:p.Thr213Ser
NM_194451.2:c.638C>G NP_919433.1:p.Thr213Ser
XM_006713990.2:c.300-2472C>G XP_006714053.1:n.300-2472C>G
NM_001363700.1:c.329C>G NP_001350629.1:p.Thr110Ser
XM_006713990.3:c.300-2472C>G XP_006714053.1:n.300-2472C>G
XM_017007665.2:c.608+2205C>G XP_016863154.1:n.608+2205C>G
XR_001741096.2:n.726C>G
NM_001278590.2:c.608+2205C>G NP_001265519.1:n.608+2205C>G
NM_001363700.2:c.329C>G NP_001350629.1:p.Thr110Ser
NM_006859.4:c.638C>G MANE Select NP_006850.2:p.Thr213Ser
NM_194451.3:c.638C>G NP_919433.1:p.Thr213Ser