Canonical Allele Identifier: CA2894591
Gene: LIAS HGNC NCBI

Linked Data

dbSNP Id: rs778957920
gnomAD v2: 4-39462488-G-A
gnomAD v4: 4-39460868-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39460868G>A , CM000666.2:g.39460868G>A GRCh38
NC_000004.11:g.39462488G>A , CM000666.1:g.39462488G>A GRCh37
NC_000004.10:g.39138883G>A NCBI36
NG_032111.1:g.6824G>A
NG_052985.1:g.3081C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.124G>A ENSP00000261434.4:p.Gly42Arg
ENST00000340169.7:c.124G>A ENSP00000340676.2:p.Gly42Arg
ENST00000381846.2:c.124G>A ENSP00000371270.1:p.Gly42Arg
ENST00000513731.6:c.124G>A ENSP00000425580.1:p.Gly42Arg
ENST00000638422.1:c.124G>A ENSP00000491001.1:p.Gly42Arg
ENST00000638451.1:c.124G>A ENSP00000491681.1:p.Gly42Arg
ENST00000638837.1:c.124G>A ENSP00000492038.1:p.Gly42Arg
ENST00000639422.1:c.124G>A ENSP00000491899.1:p.Gly42Arg
ENST00000640349.1:c.124G>A ENSP00000491477.1:p.Gly42Arg
ENST00000640381.1:n.184G>A
ENST00000640489.1:c.*23G>A ENSP00000492540.1:n.*23G>A
ENST00000640689.1:c.124G>A ENSP00000491591.1:p.Gly42Arg
ENST00000640888.2:c.124G>A MANE Select ENSP00000492260.1:p.Gly42Arg
ENST00000261434.7:c.124G>A ENSP00000261434.3:p.Gly42Arg
ENST00000340169.6:c.124G>A ENSP00000340676.2:p.Gly42Arg
ENST00000381846.1:c.124G>A ENSP00000371270.1:p.Gly42Arg
ENST00000424936.6:n.184G>A
ENST00000509519.5:n.197G>A
ENST00000513731.5:c.124G>A ENSP00000425580.1:p.Gly42Arg
ENST00000515061.1:n.122G>A
NM_001278590.1:c.124G>A NP_001265519.1:p.Gly42Arg
NM_001278591.1:c.124G>A NP_001265520.1:p.Gly42Arg
NM_001278592.1:c.124G>A NP_001265521.1:p.Gly42Arg
NM_006859.3:c.124G>A NP_006850.2:p.Gly42Arg
NM_194451.2:c.124G>A NP_919433.1:p.Gly42Arg
XM_006713990.2:c.124G>A XP_006714053.1:p.Gly42Arg
NM_001363700.1:c.124G>A NP_001350629.1:p.Gly42Arg
XM_006713990.3:c.124G>A XP_006714053.1:p.Gly42Arg
XM_017007665.2:c.124G>A XP_016863154.1:p.Gly42Arg
XR_001741096.2:n.212G>A
NM_001278590.2:c.124G>A NP_001265519.1:p.Gly42Arg
NM_001363700.2:c.124G>A NP_001350629.1:p.Gly42Arg
NM_006859.4:c.124G>A MANE Select NP_006850.2:p.Gly42Arg
NM_194451.3:c.124G>A NP_919433.1:p.Gly42Arg
NM_001278591.2:c.124G>A NP_001265520.1:p.Gly42Arg
NM_001278592.2:c.124G>A NP_001265521.1:p.Gly42Arg