Canonical Allele Identifier: CA356663892
Gene: LIAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39460951G>C , CM000666.2:g.39460951G>C GRCh38
NC_000004.11:g.39462571G>C , CM000666.1:g.39462571G>C GRCh37
NC_000004.10:g.39138966G>C NCBI36
NG_032111.1:g.6907G>C
NG_052985.1:g.2998C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261434.8:c.207G>C ENSP00000261434.4:p.Gln69His
ENST00000340169.7:c.207G>C ENSP00000340676.2:p.Gln69His
ENST00000381846.2:c.207G>C ENSP00000371270.1:p.Gln69His
ENST00000513731.6:c.207G>C ENSP00000425580.1:p.Gln69His
ENST00000638422.1:c.207G>C ENSP00000491001.1:p.Gln69His
ENST00000638430.1:c.79G>C
ENST00000638451.1:c.207G>C ENSP00000491681.1:p.Gln69His
ENST00000638816.1:c.78G>C ENSP00000492482.1:p.Gln26His
ENST00000638837.1:c.207G>C ENSP00000492038.1:p.Gln69His
ENST00000639422.1:c.207G>C ENSP00000491899.1:p.Gln69His
ENST00000640349.1:c.207G>C ENSP00000491477.1:p.Gln69His
ENST00000640381.1:n.267G>C
ENST00000640489.1:c.*106G>C ENSP00000492540.1:n.*106G>C
ENST00000640689.1:c.207G>C ENSP00000491591.1:p.Gln69His
ENST00000640888.2:c.207G>C MANE Select ENSP00000492260.1:p.Gln69His
ENST00000261434.7:c.207G>C ENSP00000261434.3:p.Gln69His
ENST00000340169.6:c.207G>C ENSP00000340676.2:p.Gln69His
ENST00000381846.1:c.207G>C ENSP00000371270.1:p.Gln69His
ENST00000424936.6:n.267G>C
ENST00000509519.5:n.280G>C
ENST00000513731.5:c.207G>C ENSP00000425580.1:p.Gln69His
ENST00000515061.1:n.205G>C
NM_001278590.1:c.207G>C NP_001265519.1:p.Gln69His
NM_001278591.1:c.207G>C NP_001265520.1:p.Gln69His
NM_001278592.1:c.207G>C NP_001265521.1:p.Gln69His
NM_006859.3:c.207G>C NP_006850.2:p.Gln69His
NM_194451.2:c.207G>C NP_919433.1:p.Gln69His
XM_006713990.2:c.207G>C XP_006714053.1:p.Gln69His
NM_001363700.1:c.207G>C NP_001350629.1:p.Gln69His
XM_006713990.3:c.207G>C XP_006714053.1:p.Gln69His
XM_017007665.2:c.207G>C XP_016863154.1:p.Gln69His
XR_001741096.2:n.295G>C
NM_001278590.2:c.207G>C NP_001265519.1:p.Gln69His
NM_001363700.2:c.207G>C NP_001350629.1:p.Gln69His
NM_006859.4:c.207G>C MANE Select NP_006850.2:p.Gln69His
NM_194451.3:c.207G>C NP_919433.1:p.Gln69His
NM_001278591.2:c.207G>C NP_001265520.1:p.Gln69His
NM_001278592.2:c.207G>C NP_001265521.1:p.Gln69His