Canonical Allele Identifier: CA584552096

Gene: COLEC10

Linked Data

• dbSNP Id: rs1418674413
• gnomAD v2: 8-120012769-G-T
• gnomAD v3: 8-119000530-G-T
• gnomAD v4: 8-119000530-G-T
• MyVariant Identifiers: chr8:g.120012769G>T (hg19) ; chr8:g.119000530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119000530G>T , CM000670.2:g.119000530G>T	GRCh38
NC_000008.10:g.120012769G>T , CM000670.1:g.120012769G>T	GRCh37
NC_000008.9:g.120081950G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000521788.1:n.122+4957G>T
XM_005250756.2:c.-60+48152G>T	XP_005250813.1:n.-60+48152G>T
NM_001324095.1:c.-323-36906G>T	NP_001311024.1:n.-323-36906G>T
XM_005250756.3:c.-60+48152G>T	XP_005250813.1:n.-60+48152G>T
NM_001324095.2:c.-323-36906G>T	NP_001311024.1:n.-323-36906G>T