Canonical Allele Identifier: CA1743603989
Gene: MKLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215286G= , CM000669.2:g.131215286G= GRCh38
NC_000007.13:g.130900045G= , CM000669.1:g.130900045G= GRCh37
NC_000007.12:g.130550585G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-179+12312G= ENSP00000387920.1:n.-179+12312G=
ENST00000421797.6:c.-179+72345G= ENSP00000398094.2:n.-179+72345G=
NM_001145354.1:c.29+72345G= NP_001138826.1:n.29+72345G=
XM_024446767.1:c.-179+12312G= XP_024302535.1:n.-179+12312G=
NM_001145354.2:c.29+72345G= NP_001138826.1:n.29+72345G=
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