Canonical Allele Identifier: CA7429339

Gene: MKRN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23566152C>T , CM000677.2:g.23566152C>T	GRCh38
NC_000015.9:g.23811299C>T , CM000677.1:g.23811299C>T	GRCh37
NC_000015.8:g.21362392C>T	NCBI36
NG_012875.2:g.5846C>T
NG_012875.3:g.5846C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005664.4:c.370C>T MANE Select	NP_005655.1:p.Arg124Trp
ENST00000314520.6:c.370C>T MANE Select	ENSP00000313881.3:p.Arg124Trp
NM_005664.3:c.370C>T	NP_005655.1:p.Arg124Trp
ENST00000314520.4:c.370C>T	ENSP00000313881.3:p.Arg124Trp
ENST00000564592.1:c.305+65C>T	ENSP00000455368.1:n.305+65C>T
ENST00000564592.2:c.305+65C>T	ENSP00000455368.1:n.305+65C>T
ENST00000568252.1:c.305+65C>T	ENSP00000456779.1:n.305+65C>T
ENST00000570112.1:c.51+319C>T	ENSP00000457884.1:n.51+319C>T
ENST00000626930.1:c.29+186G>A	ENSP00000486685.1:n.29+186G>A
ENST00000647595.1:c.51+319C>T	ENSP00000496869.1:n.51+319C>T
ENST00000649065.1:c.305+65C>T	ENSP00000496859.1:n.305+65C>T
ENST00000676568.1:c.370C>T	ENSP00000502884.1:p.Arg124Trp
ENST00000677119.1:c.305+65C>T	ENSP00000503815.1:n.305+65C>T
ENST00000678440.1:c.370C>T	ENSP00000503032.1:p.Arg124Trp
ENST00000679144.1:c.305+65C>T	ENSP00000504844.1:n.305+65C>T