Canonical Allele Identifier: CA1107237668
Gene: MKLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1795491179
gnomAD v3: 7-131128144-T-C
gnomAD v4: 7-131128144-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128144T>C , CM000669.2:g.131128144T>C GRCh38
NC_000007.13:g.130812903T>C , CM000669.1:g.130812903T>C GRCh37
NC_000007.12:g.130463443T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-418-14676T>C ENSP00000387920.1:n.-418-14676T>C
ENST00000421797.6:c.-300-14676T>C ENSP00000398094.2:n.-300-14676T>C
NM_001145354.1:c.-93-14676T>C NP_001138826.1:n.-93-14676T>C
XM_024446767.1:c.-418-14676T>C XP_024302535.1:n.-418-14676T>C
NM_001145354.2:c.-93-14676T>C NP_001138826.1:n.-93-14676T>C
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