Canonical Allele Identifier: CA2512810572

Gene: MKLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131128224A>C , CM000669.2:g.131128224A>C	GRCh38
NC_000007.13:g.130812983A>C , CM000669.1:g.130812983A>C	GRCh37
NC_000007.12:g.130463523A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000416992.6:c.-418-14596A>C	ENSP00000387920.1:n.-418-14596A>C
ENST00000421797.6:c.-300-14596A>C	ENSP00000398094.2:n.-300-14596A>C
NM_001145354.1:c.-93-14596A>C	NP_001138826.1:n.-93-14596A>C
XM_024446767.1:c.-418-14596A>C	XP_024302535.1:n.-418-14596A>C
NM_001145354.2:c.-93-14596A>C	NP_001138826.1:n.-93-14596A>C