Canonical Allele Identifier: CA2670381328

Gene: LIAS

Linked Data

• gnomAD v4: 4-39473060-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39473060G>T , CM000666.2:g.39473060G>T	GRCh38
NC_000004.11:g.39474680G>T , CM000666.1:g.39474680G>T	GRCh37
NC_000004.10:g.39151075G>T	NCBI36
NG_032111.1:g.19016G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.646-40G>T	ENSP00000261434.4:n.646-40G>T
ENST00000340169.7:c.954+1754G>T	ENSP00000340676.2:n.954+1754G>T
ENST00000381846.2:c.826-40G>T	ENSP00000371270.1:n.826-40G>T
ENST00000513731.6:c.565-40G>T	ENSP00000425580.1:n.565-40G>T
ENST00000638422.1:c.*478-40G>T	ENSP00000491001.1:n.*478-40G>T
ENST00000638430.1:c.652-40G>T
ENST00000638451.1:c.517-40G>T	ENSP00000491681.1:n.517-40G>T
ENST00000638816.1:c.669-40G>T	ENSP00000492482.1:n.669-40G>T
ENST00000639422.1:c.*311-40G>T	ENSP00000491899.1:n.*311-40G>T
ENST00000639475.1:n.1008-40G>T
ENST00000639614.1:n.149-40G>T
ENST00000640349.1:c.841-40G>T	ENSP00000491477.1:n.841-40G>T
ENST00000640381.1:n.1796-40G>T
ENST00000640672.1:c.586-40G>T	ENSP00000492203.1:n.586-40G>T
ENST00000640689.1:c.*1338+1754G>T	ENSP00000491591.1:n.*1338+1754G>T
ENST00000640816.1:n.1363-40G>T
ENST00000640888.2:c.955-40G>T MANE Select	ENSP00000492260.1:n.955-40G>T
ENST00000261434.7:c.955-40G>T	ENSP00000261434.3:n.955-40G>T
ENST00000340169.6:c.954+1754G>T	ENSP00000340676.2:n.954+1754G>T
ENST00000381846.1:c.826-40G>T	ENSP00000371270.1:n.826-40G>T
ENST00000513731.5:c.565-40G>T	ENSP00000425580.1:n.565-40G>T
NM_001278590.1:c.826-40G>T	NP_001265519.1:n.826-40G>T
NM_006859.3:c.955-40G>T	NP_006850.2:n.955-40G>T
NM_194451.2:c.954+1754G>T	NP_919433.1:n.954+1754G>T
XM_006713990.2:c.517-40G>T	XP_006714053.1:n.517-40G>T
NM_001363700.1:c.646-40G>T	NP_001350629.1:n.646-40G>T
XM_006713990.3:c.517-40G>T	XP_006714053.1:n.517-40G>T
XM_017007665.2:c.825+1754G>T	XP_016863154.1:n.825+1754G>T
XR_001741096.2:n.1694-40G>T
NM_001278590.2:c.826-40G>T	NP_001265519.1:n.826-40G>T
NM_001363700.2:c.646-40G>T	NP_001350629.1:n.646-40G>T
NM_006859.4:c.955-40G>T MANE Select	NP_006850.2:n.955-40G>T
NM_194451.3:c.954+1754G>T	NP_919433.1:n.954+1754G>T