Canonical Allele Identifier: CA584551904
Gene: COLEC10 HGNC NCBI

Linked Data

gnomAD v2: 8-120012649-G-A
MyVariant Identifiers: chr8:g.120012649G>A (hg19) chr8:g.119000410G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119000410G>A , CM000670.2:g.119000410G>A GRCh38
NC_000008.10:g.120012649G>A , CM000670.1:g.120012649G>A GRCh37
NC_000008.9:g.120081830G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521788.1:n.122+4837G>A
XM_005250756.2:c.-60+48032G>A XP_005250813.1:n.-60+48032G>A
NM_001324095.1:c.-323-37026G>A NP_001311024.1:n.-323-37026G>A
XM_005250756.3:c.-60+48032G>A XP_005250813.1:n.-60+48032G>A
NM_001324095.2:c.-323-37026G>A NP_001311024.1:n.-323-37026G>A
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