Canonical Allele Identifier: CA1315746108
Gene: PMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189784405G= , CM000664.2:g.189784405G= GRCh38
NC_000002.11:g.190649131G= , CM000664.1:g.190649131G= GRCh37
NC_000002.10:g.190357376G= NCBI36
NG_008648.1:g.5321G= , LRG_221:g.5321G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000639501.1:c.-209G= ENSP00000491236.1:n.-209G=
ENST00000418224.7:c.-209G= ENSP00000404492.4:n.-209G=
ENST00000432292.7:c.-451G= ENSP00000398378.3:n.-451G=
ENST00000441310.6:c.-209G= ENSP00000406490.2:n.-209G=
ENST00000618056.4:c.-209G= ENSP00000480632.1:n.-209G=
ENST00000624204.3:c.-634G= ENSP00000485312.1:n.-634G=
NM_000534.4:c.-209G= , LRG_221t1:c.-209G= NP_000525.1:n.-209G=
NM_001128143.1:c.-209G= NP_001121615.1:n.-209G=
NM_001128144.1:c.-209G= NP_001121616.1:n.-209G=
NM_001289408.1:c.-634G= NP_001276337.1:n.-634G=
NM_001289409.1:c.-451G= NP_001276338.1:n.-451G=
NR_110332.1:n.321G=
NM_001321044.1:c.-209G= NP_001307973.1:n.-209G=
NM_001321045.1:c.-335G= NP_001307974.1:n.-335G=
NM_001321046.1:c.-209G= NP_001307975.1:n.-209G=
NM_001321047.1:c.-386G= NP_001307976.1:n.-386G=
NM_001321048.1:c.-306G= NP_001307977.1:n.-306G=
NM_001321049.1:c.-209G= NP_001307978.1:n.-209G=
NM_001321051.1:c.-209G= NP_001307980.1:n.-209G=
XM_024452965.1:c.-180G= XP_024308733.1:n.-180G=