Canonical Allele Identifier: CA3803639

Gene: MED20 BYSL

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41916806C>A , CM000668.2:g.41916806C>A	GRCh38
NC_000006.11:g.41884544C>A , CM000668.1:g.41884544C>A	GRCh37
NC_000006.10:g.41992522C>A	NCBI36
NG_042059.1:g.9342G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004275.5:c.148G>T (MED20) MANE Select	NP_004266.2:p.Ala50Ser
ENST00000265350.9:c.148G>T (MED20) MANE Select	ENSP00000265350.4:p.Ala50Ser
NM_001305455.1:c.-18+4199G>T (MED20)	NP_001292384.1:n.-18+4199G>T
NM_001305455.2:c.-18+4199G>T (MED20)	NP_001292384.1:n.-18+4199G>T
NM_001305456.1:c.-155G>T (MED20)	NP_001292385.1:n.-155G>T
NM_001305456.2:c.-155G>T (MED20)	NP_001292385.1:n.-155G>T
NM_001305457.1:c.148G>T (MED20)	NP_001292386.1:p.Ala50Ser
NM_001305457.2:c.148G>T (MED20)	NP_001292386.1:p.Ala50Ser
NM_004275.3:c.148G>T (MED20)	NP_004266.2:p.Ala50Ser
NM_004275.4:c.148G>T (MED20)	NP_004266.2:p.Ala50Ser
NR_131160.1:n.277G>T (MED20)
NR_131160.2:n.269G>T (MED20)
ENST00000265350.8:c.148G>T (MED20)	ENSP00000265350.4:p.Ala50Ser
ENST00000394251.2:c.124G>T (MED20)	ENSP00000377795.2:p.Ala42Ser
ENST00000409060.1:c.148G>T (MED20)	ENSP00000386668.1:p.Ala50Ser
ENST00000409312.5:c.148G>T (MED20)	ENSP00000386816.1:p.Ala50Ser
ENST00000467535.5:n.278G>T (MED20)
ENST00000482361.1:n.135+4199G>T (MED20)
ENST00000613074.4:c.148G>T (MED20)	ENSP00000484159.1:p.Ala50Ser
ENST00000682596.1:c.148G>T	ENSP00000507776.1:p.Ala50Ser
ENST00000683313.1:c.148G>T	ENSP00000507759.1:p.Ala50Ser
ENST00000684631.1:c.148G>T	ENSP00000507261.1:p.Ala50Ser
XM_011514838.1:c.22+7941C>A (BYSL)	XP_011513140.1:n.22+7941C>A