Canonical Allele Identifier: CA12521314

Gene: MKLN1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131215362T>A , CM000669.2:g.131215362T>A	GRCh38
NC_000007.13:g.130900121T>A , CM000669.1:g.130900121T>A	GRCh37
NC_000007.12:g.130550661T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416992.6:c.-179+12388T>A	ENSP00000387920.1:n.-179+12388T>A
ENST00000421797.6:c.-179+72421T>A	ENSP00000398094.2:n.-179+72421T>A
NM_001145354.1:c.29+72421T>A	NP_001138826.1:n.29+72421T>A
XM_024446767.1:c.-179+12388T>A	XP_024302535.1:n.-179+12388T>A
NM_001145354.2:c.29+72421T>A	NP_001138826.1:n.29+72421T>A