Canonical Allele Identifier: CA1743604006
Gene: MKLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215307C= , CM000669.2:g.131215307C= GRCh38
NC_000007.13:g.130900066C= , CM000669.1:g.130900066C= GRCh37
NC_000007.12:g.130550606C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-179+12333C= ENSP00000387920.1:n.-179+12333C=
ENST00000421797.6:c.-179+72366C= ENSP00000398094.2:n.-179+72366C=
NM_001145354.1:c.29+72366C= NP_001138826.1:n.29+72366C=
XM_024446767.1:c.-179+12333C= XP_024302535.1:n.-179+12333C=
NM_001145354.2:c.29+72366C= NP_001138826.1:n.29+72366C=