Canonical Allele Identifier: CA2317137918
Community Standard Title: NM_130760.3(MADCAM1):c.899C= (p.Pro300=)
Gene: MADCAM1 HGNC NCBI
MADCAM1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.501900C= , CM000681.2:g.501900C= GRCh38
NC_000019.9:g.501900C= , CM000681.1:g.501900C= GRCh37
NC_000019.8:g.452900C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_130760.3:c.899C= (MADCAM1) MANE Select NP_570116.2:p.Pro300=
ENST00000215637.8:c.899C= (MADCAM1) MANE Select ENSP00000215637.2:p.Pro300=
NM_130760.2:c.899C= (MADCAM1) NP_570116.2:p.Pro300=
NM_130762.2:c.668-2845C= (MADCAM1) NP_570118.1:n.668-2845C=
NM_130762.3:c.668-2845C= (MADCAM1) NP_570118.1:n.668-2845C=
ENST00000215637.7:c.899C= (MADCAM1) ENSP00000215637.2:p.Pro300=
ENST00000346144.8:c.668-2845C= (MADCAM1) ENSP00000304247.2:n.668-2845C=
ENST00000382683.8:c.383-2845C= (MADCAM1) ENSP00000372130.4:n.383-2845C=
ENST00000587541.5:c.242C= (MADCAM1) ENSP00000475575.1:p.Pro81=
ENST00000613880.4:c.971C= (MADCAM1) ENSP00000480908.1:p.Pro324=
ENST00000617201.4:c.953C= (MADCAM1) ENSP00000484317.1:p.Pro318=
ENST00000619333.4:c.947C= (MADCAM1) ENSP00000484153.1:p.Pro316=
ENST00000621286.1:c.953C= (MADCAM1) ENSP00000483663.1:p.Pro318=
ENST00000622462.4:c.923C= (MADCAM1) ENSP00000480104.1:p.Pro308=
XR_936221.1:n.85-276G= (MADCAM1-AS1)
XR_936221.3:n.88-276G= (MADCAM1-AS1)
XR_936222.1:n.85-276G= (MADCAM1-AS1)