Canonical Allele Identifier: CA365550938

Gene: MCM9

Linked Data

• MyVariant Identifiers: chr6:g.119149106C>G (hg19) ; chr6:g.118827943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118827943C>G , CM000668.2:g.118827943C>G	GRCh38
NC_000006.11:g.119149106C>G , CM000668.1:g.119149106C>G	GRCh37
NC_000006.10:g.119255798C>G	NCBI36
NG_041822.1:g.112220G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619706.5:c.1716G>C MANE Select	ENSP00000480469.1:p.Leu572Phe
ENST00000316316.10:c.1716G>C	ENSP00000314505.5:p.Leu572Phe
ENST00000458674.2:c.207-1079G>C
ENST00000619706.4:c.1716G>C	ENSP00000480469.1:p.Leu572Phe
NM_017696.2:c.1716G>C	NP_060166.2:p.Leu572Phe
NM_001378356.1:c.1716G>C	NP_001365285.1:p.Leu572Phe
NM_001378357.1:c.1716G>C	NP_001365286.1:p.Leu572Phe
NM_001378359.1:c.1716G>C	NP_001365288.1:p.Leu572Phe
NM_001378360.1:c.1716G>C	NP_001365289.1:p.Leu572Phe
NM_001378364.1:c.1529-1079G>C	NP_001365293.1:n.1529-1079G>C
NM_001378366.1:c.1590G>C	NP_001365295.1:p.Leu530Phe
NM_001378367.1:c.1518G>C	NP_001365296.1:p.Leu506Phe
NM_017696.3:c.1716G>C MANE Select	NP_060166.2:p.Leu572Phe
NR_165493.1:n.1825G>C