Canonical Allele Identifier: CA184876729

Gene: COLEC10

Linked Data

• dbSNP Id: rs949068375
• gnomAD v2: 8-120012628-A-T
• gnomAD v3: 8-119000389-A-T
• gnomAD v4: 8-119000389-A-T
• MyVariant Identifiers: chr8:g.120012628A>T (hg19) ; chr8:g.119000389A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000389A>T , CM000670.2:g.119000389A>T	GRCh38
NC_000008.10:g.120012628A>T , CM000670.1:g.120012628A>T	GRCh37
NC_000008.9:g.120081809A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521788.1:n.122+4816A>T
XM_005250756.2:c.-60+48011A>T	XP_005250813.1:n.-60+48011A>T
NM_001324095.1:c.-323-37047A>T	NP_001311024.1:n.-323-37047A>T
XM_005250756.3:c.-60+48011A>T	XP_005250813.1:n.-60+48011A>T
NM_001324095.2:c.-323-37047A>T	NP_001311024.1:n.-323-37047A>T