Canonical Allele Identifier: CA204094

Gene: MDN1

Linked Data

• ClinVar Variation Id: 207856
• ClinVar RCV Id: RCV000190146
• dbSNP Id: rs796052156
• gnomAD v3: 6-89695654-A-G
• gnomAD v4: 6-89695654-A-G
• MyVariant Identifiers: chr6:g.90405373A>G (hg19) ; chr6:g.89695654A>G (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89695654A>G , CM000668.2:g.89695654A>G	GRCh38
NC_000006.11:g.90405373A>G , CM000668.1:g.90405373A>G	GRCh37
NC_000006.10:g.90462094A>G	NCBI36
NG_034012.1:g.129141T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700643.1:n.422T>C
ENST00000700647.1:n.422T>C
ENST00000700648.1:n.422T>C
ENST00000700649.1:n.422T>C
ENST00000700650.1:n.422T>C
ENST00000369393.8:c.9722T>C MANE Select	ENSP00000358400.3:p.Phe3241Ser
ENST00000369393.7:c.9722T>C	ENSP00000358400.3:p.Phe3241Ser
ENST00000629399.2:c.9722T>C	ENSP00000486270.1:p.Phe3241Ser
NM_014611.2:c.9722T>C	NP_055426.1:p.Phe3241Ser
XM_005248700.3:c.3707T>C	XP_005248757.1:p.Phe1236Ser
XM_006715405.2:c.4166T>C	XP_006715468.1:p.Phe1389Ser
XM_011535635.1:c.9431T>C	XP_011533937.1:p.Phe3144Ser
XM_011535636.1:c.9722T>C	XP_011533938.1:p.Phe3241Ser
XR_942362.1:n.9879T>C
XM_006715405.3:c.4166T>C	XP_006715468.1:p.Phe1389Ser
XM_011535635.2:c.9431T>C	XP_011533937.1:p.Phe3144Ser
XM_011535636.3:c.9722T>C	XP_011533938.1:p.Phe3241Ser
XM_024446382.1:c.9722T>C	XP_024302150.1:p.Phe3241Ser
NM_014611.3:c.9722T>C MANE Select	NP_055426.1:p.Phe3241Ser