Canonical Allele Identifier: CA3803641

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41916807G>A , CM000668.2:g.41916807G>A GRCh38
NC_000006.11:g.41884545G>A , CM000668.1:g.41884545G>A GRCh37
NC_000006.10:g.41992523G>A NCBI36
NG_042059.1:g.9341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682596.1:c.147C>T ENSP00000507776.1:p.Ala49=
ENST00000683313.1:c.147C>T ENSP00000507759.1:p.Ala49=
ENST00000684631.1:c.147C>T ENSP00000507261.1:p.Ala49=
ENST00000265350.9:c.147C>T (MED20) MANE Select ENSP00000265350.4:p.Ala49=
ENST00000265350.8:c.147C>T (MED20) ENSP00000265350.4:p.Ala49=
ENST00000394251.2:c.123C>T (MED20) ENSP00000377795.2:p.Ala41=
ENST00000409060.1:c.147C>T (MED20) ENSP00000386668.1:p.Ala49=
ENST00000409312.5:c.147C>T (MED20) ENSP00000386816.1:p.Ala49=
ENST00000467535.5:n.277C>T (MED20)
ENST00000482361.1:n.135+4198C>T (MED20)
ENST00000613074.4:c.147C>T (MED20) ENSP00000484159.1:p.Ala49=
NM_001305455.1:c.-18+4198C>T (MED20) NP_001292384.1:n.-18+4198C>T
NM_001305456.1:c.-156C>T (MED20) NP_001292385.1:n.-156C>T
NM_001305457.1:c.147C>T (MED20) NP_001292386.1:p.Ala49=
NM_004275.3:c.147C>T (MED20) NP_004266.2:p.Ala49=
NM_004275.4:c.147C>T (MED20) NP_004266.2:p.Ala49=
NR_131160.1:n.276C>T (MED20)
XM_011514838.1:c.22+7942G>A (BYSL) XP_011513140.1:n.22+7942G>A
NM_004275.5:c.147C>T (MED20) MANE Select NP_004266.2:p.Ala49=
NM_001305455.2:c.-18+4198C>T (MED20) NP_001292384.1:n.-18+4198C>T
NM_001305457.2:c.147C>T (MED20) NP_001292386.1:p.Ala49=
NR_131160.2:n.268C>T (MED20)
NM_001305456.2:c.-156C>T (MED20) NP_001292385.1:n.-156C>T