Canonical Allele Identifier: CA846349411

Gene: COLEC10

Linked Data

• dbSNP Id: rs1479748548
• gnomAD v3: 8-119000523-G-A
• gnomAD v4: 8-119000523-G-A
• MyVariant Identifiers: chr8:g.120012762G>A (hg19) ; chr8:g.119000523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000523G>A , CM000670.2:g.119000523G>A	GRCh38
NC_000008.10:g.120012762G>A , CM000670.1:g.120012762G>A	GRCh37
NC_000008.9:g.120081943G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000521788.1:n.122+4950G>A
XM_005250756.2:c.-60+48145G>A	XP_005250813.1:n.-60+48145G>A
NM_001324095.1:c.-323-36913G>A	NP_001311024.1:n.-323-36913G>A
XM_005250756.3:c.-60+48145G>A	XP_005250813.1:n.-60+48145G>A
NM_001324095.2:c.-323-36913G>A	NP_001311024.1:n.-323-36913G>A