Canonical Allele Identifier: CA1743604136
Gene: MKLN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215402A= , CM000669.2:g.131215402A= GRCh38
NC_000007.13:g.130900161A= , CM000669.1:g.130900161A= GRCh37
NC_000007.12:g.130550701A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416992.6:c.-179+12428A= ENSP00000387920.1:n.-179+12428A=
ENST00000421797.6:c.-179+72461A= ENSP00000398094.2:n.-179+72461A=
NM_001145354.1:c.29+72461A= NP_001138826.1:n.29+72461A=
XM_024446767.1:c.-179+12428A= XP_024302535.1:n.-179+12428A=
NM_001145354.2:c.29+72461A= NP_001138826.1:n.29+72461A=