Canonical Allele Identifier: CA7195451
Gene: LGALS3 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.55138217C>A
GRCh37 chr14:g.55604935C>A
Revel Score:
ENST00000553493 0.176
ENST00000254301 (MANE Select) 0.176
ENST00000554715 0.176
gnomAD v2:
14:55604935 C / A
gnomAD v3:
14:55138217 C / A
gnomAD v4:
chr14-55138217-C-A
Joint Max Group AF 0.40820368 (NFE)
Genomes Max Group AF 0.40254544 (NFE)
Exomes Max Group AF 0.40833358 (NFE)
dbSNP:
4644
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.55138217C>A , CM000676.2:g.55138217C>A GRCh38
NC_000014.8:g.55604935C>A , CM000676.1:g.55604935C>A GRCh37
NC_000014.7:g.54674688C>A NCBI36
NG_017089.1:g.14001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254301.14:c.191C>A MANE Select ENSP00000254301.9:p.Pro64His
ENST00000254301.13:c.191C>A ENSP00000254301.9:p.Pro64His
ENST00000553493.5:c.191C>A ENSP00000451526.1:p.Pro64His
ENST00000553755.5:n.218C>A
ENST00000554715.1:c.191C>A ENSP00000451381.1:p.Pro64His
ENST00000556263.1:n.174C>A
ENST00000556322.1:n.264C>A
ENST00000556438.6:n.1030C>A
NM_001177388.1:c.191C>A NP_001170859.1:p.Pro64His
NM_002306.3:c.191C>A NP_002297.2:p.Pro64His
NR_003225.2:n.1235C>A
XM_011536759.1:c.191C>A XP_011535061.1:p.Pro64His
NM_001357678.1:c.233C>A NP_001344607.1:p.Pro78His
NM_002306.4:c.191C>A MANE Select NP_002297.2:p.Pro64His
NM_001357678.2:c.233C>A NP_001344607.1:p.Pro78His
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