Canonical Allele Identifier: CA1743604011
Gene: MKLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1796964278
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215313G>A , CM000669.2:g.131215313G>A GRCh38
NC_000007.13:g.130900072G>A , CM000669.1:g.130900072G>A GRCh37
NC_000007.12:g.130550612G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-179+12339G>A ENSP00000387920.1:n.-179+12339G>A
ENST00000421797.6:c.-179+72372G>A ENSP00000398094.2:n.-179+72372G>A
NM_001145354.1:c.29+72372G>A NP_001138826.1:n.29+72372G>A
XM_024446767.1:c.-179+12339G>A XP_024302535.1:n.-179+12339G>A
NM_001145354.2:c.29+72372G>A NP_001138826.1:n.29+72372G>A
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