Canonical Allele Identifier: CA833368651

Gene: MKLN1

Linked Data

• dbSNP Id: rs1451496305
• gnomAD v3: 7-131215311-G-T
• gnomAD v4: 7-131215311-G-T
• MyVariant Identifiers: chr7:g.130900070G>T (hg19) ; chr7:g.131215311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131215311G>T , CM000669.2:g.131215311G>T	GRCh38
NC_000007.13:g.130900070G>T , CM000669.1:g.130900070G>T	GRCh37
NC_000007.12:g.130550610G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000416992.6:c.-179+12337G>T	ENSP00000387920.1:n.-179+12337G>T
ENST00000421797.6:c.-179+72370G>T	ENSP00000398094.2:n.-179+72370G>T
NM_001145354.1:c.29+72370G>T	NP_001138826.1:n.29+72370G>T
XM_024446767.1:c.-179+12337G>T	XP_024302535.1:n.-179+12337G>T
NM_001145354.2:c.29+72370G>T	NP_001138826.1:n.29+72370G>T