Canonical Allele Identifier: CA1743603901

Gene: MKLN1

Linked Data

• dbSNP Id: rs1796962838

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131215201A>G , CM000669.2:g.131215201A>G	GRCh38
NC_000007.13:g.130899960A>G , CM000669.1:g.130899960A>G	GRCh37
NC_000007.12:g.130550500A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416992.6:c.-179+12227A>G	ENSP00000387920.1:n.-179+12227A>G
ENST00000421797.6:c.-179+72260A>G	ENSP00000398094.2:n.-179+72260A>G
NM_001145354.1:c.29+72260A>G	NP_001138826.1:n.29+72260A>G
XM_024446767.1:c.-179+12227A>G	XP_024302535.1:n.-179+12227A>G
NM_001145354.2:c.29+72260A>G	NP_001138826.1:n.29+72260A>G