Canonical Allele Identifier: CA833365551
Gene: MKLN1 HGNC NCBI

Linked Data

dbSNP Id: rs1436334874
gnomAD v3: 7-131128049-T-G
gnomAD v4: 7-131128049-T-G
MyVariant Identifiers: chr7:g.130812808T>G (hg19) chr7:g.131128049T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131128049T>G , CM000669.2:g.131128049T>G GRCh38
NC_000007.13:g.130812808T>G , CM000669.1:g.130812808T>G GRCh37
NC_000007.12:g.130463348T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000416992.6:c.-418-14771T>G ENSP00000387920.1:n.-418-14771T>G
ENST00000421797.6:c.-300-14771T>G ENSP00000398094.2:n.-300-14771T>G
NM_001145354.1:c.-93-14771T>G NP_001138826.1:n.-93-14771T>G
XM_024446767.1:c.-418-14771T>G XP_024302535.1:n.-418-14771T>G
NM_001145354.2:c.-93-14771T>G NP_001138826.1:n.-93-14771T>G
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