Canonical Allele Identifier: CA15386314

Gene: MARCHF6

Linked Data

• dbSNP Id: rs2607292
• gnomAD v2: 5-10372618-T-C
• gnomAD v3: 5-10372506-T-C
• gnomAD v4: 5-10372506-T-C
• MyVariant Identifiers: chr5:g.10372618T>C (hg19) ; chr5:g.10372506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10372506T>C , CM000667.2:g.10372506T>C	GRCh38
NC_000005.9:g.10372618T>C , CM000667.1:g.10372618T>C	GRCh37
NC_000005.8:g.10425618T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000274140.10:c.20-5292T>C MANE Select	ENSP00000274140.4:n.20-5292T>C
ENST00000640713.1:c.20-5292T>C	ENSP00000491579.1:n.20-5292T>C
ENST00000274140.9:c.20-5292T>C	ENSP00000274140.4:n.20-5292T>C
ENST00000449913.6:c.20-5292T>C	ENSP00000414643.2:n.20-5292T>C
ENST00000502795.5:c.20-5292T>C	ENSP00000426000.1:n.20-5292T>C
ENST00000503788.5:c.20-14488T>C	ENSP00000425930.1:n.20-14488T>C
ENST00000507863.1:n.34-5292T>C
ENST00000510872.5:n.30-5292T>C
ENST00000511802.5:n.204-5292T>C
NM_001270660.1:c.20-5292T>C	NP_001257589.1:n.20-5292T>C
NM_001270661.1:c.20-14488T>C	NP_001257590.1:n.20-14488T>C
NM_005885.3:c.20-5292T>C	NP_005876.2:n.20-5292T>C
XM_011513932.1:c.-185-5292T>C	XP_011512234.1:n.-185-5292T>C
XM_011513933.1:c.-142-5292T>C	XP_011512235.1:n.-142-5292T>C
XM_011513934.1:c.20-5292T>C	XP_011512236.1:n.20-5292T>C
XM_011513935.1:c.-142-5292T>C	XP_011512237.1:n.-142-5292T>C
XM_011513936.1:c.20-5292T>C	XP_011512238.1:n.20-5292T>C
XR_925576.1:n.241-5292T>C
XR_925577.1:n.241-5292T>C
XM_011513932.2:c.-185-5292T>C	XP_011512234.1:n.-185-5292T>C
XM_011513934.2:c.20-5292T>C	XP_011512236.1:n.20-5292T>C
XM_011513936.3:c.20-5292T>C	XP_011512238.1:n.20-5292T>C
XM_017008944.2:c.20-5292T>C	XP_016864433.1:n.20-5292T>C
XR_925576.3:n.226-5292T>C
XR_925577.2:n.226-5292T>C
NM_005885.4:c.20-5292T>C MANE Select	NP_005876.2:n.20-5292T>C
NM_001270660.2:c.20-5292T>C	NP_001257589.1:n.20-5292T>C
NM_001270661.2:c.20-14488T>C	NP_001257590.1:n.20-14488T>C