Canonical Allele Identifier: CA167186799
Gene: MKLN1 HGNC NCBI

Linked Data

dbSNP Id: rs577992366
gnomAD v2: 7-130900032-C-T
gnomAD v3: 7-131215273-C-T
gnomAD v4: 7-131215273-C-T
MyVariant Identifiers: chr7:g.130900032C>T (hg19) chr7:g.131215273C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.131215273C>T , CM000669.2:g.131215273C>T GRCh38
NC_000007.13:g.130900032C>T , CM000669.1:g.130900032C>T GRCh37
NC_000007.12:g.130550572C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416992.6:c.-179+12299C>T ENSP00000387920.1:n.-179+12299C>T
ENST00000421797.6:c.-179+72332C>T ENSP00000398094.2:n.-179+72332C>T
NM_001145354.1:c.29+72332C>T NP_001138826.1:n.29+72332C>T
XM_024446767.1:c.-179+12299C>T XP_024302535.1:n.-179+12299C>T
NM_001145354.2:c.29+72332C>T NP_001138826.1:n.29+72332C>T
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