Canonical Allele Identifier: CA2777916540
Gene: MKLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128185C>A , CM000669.2:g.131128185C>A GRCh38
NC_000007.13:g.130812944C>A , CM000669.1:g.130812944C>A GRCh37
NC_000007.12:g.130463484C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416992.6:c.-418-14635C>A ENSP00000387920.1:n.-418-14635C>A
ENST00000421797.6:c.-300-14635C>A ENSP00000398094.2:n.-300-14635C>A
NM_001145354.1:c.-93-14635C>A NP_001138826.1:n.-93-14635C>A
XM_024446767.1:c.-418-14635C>A XP_024302535.1:n.-418-14635C>A
NM_001145354.2:c.-93-14635C>A NP_001138826.1:n.-93-14635C>A
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