Canonical Allele Identifier: CA2980061250

Gene: LIAS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39463460G>A , CM000666.2:g.39463460G>A	GRCh38
NC_000004.11:g.39465080G>A , CM000666.1:g.39465080G>A	GRCh37
NC_000004.10:g.39141475G>A	NCBI36
NG_032111.1:g.9416G>A
NG_052985.1:g.489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006859.4:c.313-65G>A MANE Select	NP_006850.2:n.313-65G>A
ENST00000640888.2:c.313-65G>A MANE Select	ENSP00000492260.1:n.313-65G>A
NM_001278590.1:c.313-65G>A	NP_001265519.1:n.313-65G>A
NM_001278590.2:c.313-65G>A	NP_001265519.1:n.313-65G>A
NM_001278591.1:c.313-65G>A	NP_001265520.1:n.313-65G>A
NM_001278591.2:c.313-65G>A	NP_001265520.1:n.313-65G>A
NM_001278592.1:c.219-65G>A	NP_001265521.1:n.219-65G>A
NM_001278592.2:c.219-65G>A	NP_001265521.1:n.219-65G>A
NM_001363700.1:c.219-65G>A	NP_001350629.1:n.219-65G>A
NM_001363700.2:c.219-65G>A	NP_001350629.1:n.219-65G>A
NM_006859.3:c.313-65G>A	NP_006850.2:n.313-65G>A
NM_194451.2:c.313-65G>A	NP_919433.1:n.313-65G>A
NM_194451.3:c.313-65G>A	NP_919433.1:n.313-65G>A
ENST00000261434.7:c.313-65G>A	ENSP00000261434.3:n.313-65G>A
ENST00000261434.8:c.219-65G>A	ENSP00000261434.4:n.219-65G>A
ENST00000340169.6:c.313-65G>A	ENSP00000340676.2:n.313-65G>A
ENST00000340169.7:c.313-65G>A	ENSP00000340676.2:n.313-65G>A
ENST00000381846.1:c.313-65G>A	ENSP00000371270.1:n.313-65G>A
ENST00000381846.2:c.313-65G>A	ENSP00000371270.1:n.313-65G>A
ENST00000424936.6:n.373-65G>A
ENST00000509519.5:n.292-65G>A
ENST00000513731.5:c.218+2498G>A	ENSP00000425580.1:n.218+2498G>A
ENST00000513731.6:c.218+2498G>A	ENSP00000425580.1:n.218+2498G>A
ENST00000515061.1:n.311-65G>A
ENST00000638422.1:c.313-65G>A	ENSP00000491001.1:n.313-65G>A
ENST00000638430.1:c.91-1586G>A
ENST00000638451.1:c.219-65G>A	ENSP00000491681.1:n.219-65G>A
ENST00000638816.1:c.184-65G>A	ENSP00000492482.1:n.184-65G>A
ENST00000638837.1:c.219-1586G>A	ENSP00000492038.1:n.219-1586G>A
ENST00000639422.1:c.313-65G>A	ENSP00000491899.1:n.313-65G>A
ENST00000640349.1:c.313-65G>A	ENSP00000491477.1:n.313-65G>A
ENST00000640381.1:n.373-65G>A
ENST00000640672.1:c.73-65G>A	ENSP00000492203.1:n.73-65G>A
ENST00000640689.1:c.219-65G>A	ENSP00000491591.1:n.219-65G>A
XM_006713990.2:c.219-65G>A	XP_006714053.1:n.219-65G>A
XM_006713990.3:c.219-65G>A	XP_006714053.1:n.219-65G>A
XM_017007665.2:c.313-65G>A	XP_016863154.1:n.313-65G>A
XR_001741096.2:n.401-65G>A