Canonical Allele Identifier: CA438944820
Gene: LIAS HGNC NCBI

Linked Data

dbSNP Id: rs1229633905
gnomAD v2: 4-39462496-C-T
gnomAD v4: 4-39460876-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39460876C>T , CM000666.2:g.39460876C>T GRCh38
NC_000004.11:g.39462496C>T , CM000666.1:g.39462496C>T GRCh37
NC_000004.10:g.39138891C>T NCBI36
NG_032111.1:g.6832C>T
NG_052985.1:g.3073G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261434.8:c.132C>T ENSP00000261434.4:p.Asp44=
ENST00000340169.7:c.132C>T ENSP00000340676.2:p.Asp44=
ENST00000381846.2:c.132C>T ENSP00000371270.1:p.Asp44=
ENST00000513731.6:c.132C>T ENSP00000425580.1:p.Asp44=
ENST00000638422.1:c.132C>T ENSP00000491001.1:p.Asp44=
ENST00000638430.1:c.4C>T
ENST00000638451.1:c.132C>T ENSP00000491681.1:p.Asp44=
ENST00000638816.1:c.3C>T ENSP00000492482.1:p.Asp1=
ENST00000638837.1:c.132C>T ENSP00000492038.1:p.Asp44=
ENST00000639422.1:c.132C>T ENSP00000491899.1:p.Asp44=
ENST00000640349.1:c.132C>T ENSP00000491477.1:p.Asp44=
ENST00000640381.1:n.192C>T
ENST00000640489.1:c.*31C>T ENSP00000492540.1:n.*31C>T
ENST00000640689.1:c.132C>T ENSP00000491591.1:p.Asp44=
ENST00000640888.2:c.132C>T MANE Select ENSP00000492260.1:p.Asp44=
ENST00000261434.7:c.132C>T ENSP00000261434.3:p.Asp44=
ENST00000340169.6:c.132C>T ENSP00000340676.2:p.Asp44=
ENST00000381846.1:c.132C>T ENSP00000371270.1:p.Asp44=
ENST00000424936.6:n.192C>T
ENST00000509519.5:n.205C>T
ENST00000513731.5:c.132C>T ENSP00000425580.1:p.Asp44=
ENST00000515061.1:n.130C>T
NM_001278590.1:c.132C>T NP_001265519.1:p.Asp44=
NM_001278591.1:c.132C>T NP_001265520.1:p.Asp44=
NM_001278592.1:c.132C>T NP_001265521.1:p.Asp44=
NM_006859.3:c.132C>T NP_006850.2:p.Asp44=
NM_194451.2:c.132C>T NP_919433.1:p.Asp44=
XM_006713990.2:c.132C>T XP_006714053.1:p.Asp44=
NM_001363700.1:c.132C>T NP_001350629.1:p.Asp44=
XM_006713990.3:c.132C>T XP_006714053.1:p.Asp44=
XM_017007665.2:c.132C>T XP_016863154.1:p.Asp44=
XR_001741096.2:n.220C>T
NM_001278590.2:c.132C>T NP_001265519.1:p.Asp44=
NM_001363700.2:c.132C>T NP_001350629.1:p.Asp44=
NM_006859.4:c.132C>T MANE Select NP_006850.2:p.Asp44=
NM_194451.3:c.132C>T NP_919433.1:p.Asp44=
NM_001278591.2:c.132C>T NP_001265520.1:p.Asp44=
NM_001278592.2:c.132C>T NP_001265521.1:p.Asp44=