Canonical Allele Identifier: CA356664930

Gene: LIAS

Linked Data

• gnomAD v4: 4-39467564-G-A
• MyVariant Identifiers: chr4:g.39469184G>A (hg19) ; chr4:g.39467564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467564G>A , CM000666.2:g.39467564G>A	GRCh38
NC_000004.11:g.39469184G>A , CM000666.1:g.39469184G>A	GRCh37
NC_000004.10:g.39145579G>A	NCBI36
NG_032111.1:g.13520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.346G>A	ENSP00000261434.4:p.Asp116Asn
ENST00000340169.7:c.655G>A	ENSP00000340676.2:p.Asp219Asn
ENST00000381846.2:c.608+2222G>A	ENSP00000371270.1:n.608+2222G>A
ENST00000513731.6:c.265G>A	ENSP00000425580.1:p.Asp89Asn
ENST00000638422.1:c.655G>A	ENSP00000491001.1:p.Asp219Asn
ENST00000638430.1:c.352G>A
ENST00000638451.1:c.300-2455G>A	ENSP00000491681.1:n.300-2455G>A
ENST00000638816.1:c.369G>A	ENSP00000492482.1:n.369G>A
ENST00000639422.1:c.*11G>A	ENSP00000491899.1:n.*11G>A
ENST00000640349.1:c.541G>A	ENSP00000491477.1:p.Asp181Asn
ENST00000640381.1:n.715G>A
ENST00000640672.1:c.368+2222G>A	ENSP00000492203.1:n.368+2222G>A
ENST00000640689.1:c.*258G>A	ENSP00000491591.1:n.*258G>A
ENST00000640888.2:c.655G>A MANE Select	ENSP00000492260.1:p.Asp219Asn
ENST00000261434.7:c.655G>A	ENSP00000261434.3:p.Asp219Asn
ENST00000340169.6:c.655G>A	ENSP00000340676.2:p.Asp219Asn
ENST00000381846.1:c.608+2222G>A	ENSP00000371270.1:n.608+2222G>A
ENST00000513731.5:c.265G>A	ENSP00000425580.1:p.Asp89Asn
NM_001278590.1:c.608+2222G>A	NP_001265519.1:n.608+2222G>A
NM_006859.3:c.655G>A	NP_006850.2:p.Asp219Asn
NM_194451.2:c.655G>A	NP_919433.1:p.Asp219Asn
XM_006713990.2:c.300-2455G>A	XP_006714053.1:n.300-2455G>A
NM_001363700.1:c.346G>A	NP_001350629.1:p.Asp116Asn
XM_006713990.3:c.300-2455G>A	XP_006714053.1:n.300-2455G>A
XM_017007665.2:c.608+2222G>A	XP_016863154.1:n.608+2222G>A
XR_001741096.2:n.743G>A
NM_001278590.2:c.608+2222G>A	NP_001265519.1:n.608+2222G>A
NM_001363700.2:c.346G>A	NP_001350629.1:p.Asp116Asn
NM_006859.4:c.655G>A MANE Select	NP_006850.2:p.Asp219Asn
NM_194451.3:c.655G>A	NP_919433.1:p.Asp219Asn