Canonical Allele Identifier: CA2980061240

Gene: LIAS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39463445A>G , CM000666.2:g.39463445A>G	GRCh38
NC_000004.11:g.39465065A>G , CM000666.1:g.39465065A>G	GRCh37
NC_000004.10:g.39141460A>G	NCBI36
NG_032111.1:g.9401A>G
NG_052985.1:g.504T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006859.4:c.313-80A>G MANE Select	NP_006850.2:n.313-80A>G
ENST00000640888.2:c.313-80A>G MANE Select	ENSP00000492260.1:n.313-80A>G
NM_001278590.1:c.313-80A>G	NP_001265519.1:n.313-80A>G
NM_001278590.2:c.313-80A>G	NP_001265519.1:n.313-80A>G
NM_001278591.1:c.313-80A>G	NP_001265520.1:n.313-80A>G
NM_001278591.2:c.313-80A>G	NP_001265520.1:n.313-80A>G
NM_001278592.1:c.219-80A>G	NP_001265521.1:n.219-80A>G
NM_001278592.2:c.219-80A>G	NP_001265521.1:n.219-80A>G
NM_001363700.1:c.219-80A>G	NP_001350629.1:n.219-80A>G
NM_001363700.2:c.219-80A>G	NP_001350629.1:n.219-80A>G
NM_006859.3:c.313-80A>G	NP_006850.2:n.313-80A>G
NM_194451.2:c.313-80A>G	NP_919433.1:n.313-80A>G
NM_194451.3:c.313-80A>G	NP_919433.1:n.313-80A>G
ENST00000261434.7:c.313-80A>G	ENSP00000261434.3:n.313-80A>G
ENST00000261434.8:c.219-80A>G	ENSP00000261434.4:n.219-80A>G
ENST00000340169.6:c.313-80A>G	ENSP00000340676.2:n.313-80A>G
ENST00000340169.7:c.313-80A>G	ENSP00000340676.2:n.313-80A>G
ENST00000381846.1:c.313-80A>G	ENSP00000371270.1:n.313-80A>G
ENST00000381846.2:c.313-80A>G	ENSP00000371270.1:n.313-80A>G
ENST00000424936.6:n.373-80A>G
ENST00000509519.5:n.292-80A>G
ENST00000513731.5:c.218+2483A>G	ENSP00000425580.1:n.218+2483A>G
ENST00000513731.6:c.218+2483A>G	ENSP00000425580.1:n.218+2483A>G
ENST00000515061.1:n.311-80A>G
ENST00000638422.1:c.313-80A>G	ENSP00000491001.1:n.313-80A>G
ENST00000638430.1:c.91-1601A>G
ENST00000638451.1:c.219-80A>G	ENSP00000491681.1:n.219-80A>G
ENST00000638816.1:c.184-80A>G	ENSP00000492482.1:n.184-80A>G
ENST00000638837.1:c.219-1601A>G	ENSP00000492038.1:n.219-1601A>G
ENST00000639422.1:c.313-80A>G	ENSP00000491899.1:n.313-80A>G
ENST00000640349.1:c.313-80A>G	ENSP00000491477.1:n.313-80A>G
ENST00000640381.1:n.373-80A>G
ENST00000640672.1:c.73-80A>G	ENSP00000492203.1:n.73-80A>G
ENST00000640689.1:c.219-80A>G	ENSP00000491591.1:n.219-80A>G
XM_006713990.2:c.219-80A>G	XP_006714053.1:n.219-80A>G
XM_006713990.3:c.219-80A>G	XP_006714053.1:n.219-80A>G
XM_017007665.2:c.313-80A>G	XP_016863154.1:n.313-80A>G
XR_001741096.2:n.401-80A>G