Canonical Allele Identifier: CA356664940

Gene: LIAS

Linked Data

• MyVariant Identifiers: chr4:g.39469188T>A (hg19) ; chr4:g.39467568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467568T>A , CM000666.2:g.39467568T>A	GRCh38
NC_000004.11:g.39469188T>A , CM000666.1:g.39469188T>A	GRCh37
NC_000004.10:g.39145583T>A	NCBI36
NG_032111.1:g.13524T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261434.8:c.350T>A	ENSP00000261434.4:p.Leu117His
ENST00000340169.7:c.659T>A	ENSP00000340676.2:p.Leu220His
ENST00000381846.2:c.608+2226T>A	ENSP00000371270.1:n.608+2226T>A
ENST00000513731.6:c.269T>A	ENSP00000425580.1:p.Leu90His
ENST00000638422.1:c.659T>A	ENSP00000491001.1:p.Leu220His
ENST00000638430.1:c.356T>A
ENST00000638451.1:c.300-2451T>A	ENSP00000491681.1:n.300-2451T>A
ENST00000638816.1:c.373T>A	ENSP00000492482.1:n.373T>A
ENST00000639422.1:c.*15T>A	ENSP00000491899.1:n.*15T>A
ENST00000640349.1:c.545T>A	ENSP00000491477.1:p.Leu182His
ENST00000640381.1:n.719T>A
ENST00000640672.1:c.368+2226T>A	ENSP00000492203.1:n.368+2226T>A
ENST00000640689.1:c.*262T>A	ENSP00000491591.1:n.*262T>A
ENST00000640888.2:c.659T>A MANE Select	ENSP00000492260.1:p.Leu220His
ENST00000261434.7:c.659T>A	ENSP00000261434.3:p.Leu220His
ENST00000340169.6:c.659T>A	ENSP00000340676.2:p.Leu220His
ENST00000381846.1:c.608+2226T>A	ENSP00000371270.1:n.608+2226T>A
ENST00000513731.5:c.269T>A	ENSP00000425580.1:p.Leu90His
NM_001278590.1:c.608+2226T>A	NP_001265519.1:n.608+2226T>A
NM_006859.3:c.659T>A	NP_006850.2:p.Leu220His
NM_194451.2:c.659T>A	NP_919433.1:p.Leu220His
XM_006713990.2:c.300-2451T>A	XP_006714053.1:n.300-2451T>A
NM_001363700.1:c.350T>A	NP_001350629.1:p.Leu117His
XM_006713990.3:c.300-2451T>A	XP_006714053.1:n.300-2451T>A
XM_017007665.2:c.608+2226T>A	XP_016863154.1:n.608+2226T>A
XR_001741096.2:n.747T>A
NM_001278590.2:c.608+2226T>A	NP_001265519.1:n.608+2226T>A
NM_001363700.2:c.350T>A	NP_001350629.1:p.Leu117His
NM_006859.4:c.659T>A MANE Select	NP_006850.2:p.Leu220His
NM_194451.3:c.659T>A	NP_919433.1:p.Leu220His