Canonical Allele Identifier: CA6810667

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982397G>A , CM000674.2:g.115982397G>A	GRCh38
NC_000012.11:g.116420202G>A , CM000674.1:g.116420202G>A	GRCh37
NC_000012.10:g.114904585G>A	NCBI36
NG_023366.1:g.299790C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.5162C>T MANE Select	NP_056150.1:p.Ser1721Phe
ENST00000281928.9:c.5162C>T MANE Select	ENSP00000281928.3:p.Ser1721Phe
NM_015335.4:c.5162C>T	NP_056150.1:p.Ser1721Phe
ENST00000281928.7:c.5162C>T	ENSP00000281928.3:p.Ser1721Phe
ENST00000549786.1:c.526C>T
ENST00000549786.2:c.4590C>T
ENST00000552340.1:c.194C>T	ENSP00000449876.1:p.Ser65Phe
ENST00000648379.1:n.3530C>T
ENST00000648737.1:n.4926C>T
ENST00000648825.1:n.1902C>T
ENST00000648916.1:n.3173C>T
ENST00000649146.1:n.2405C>T
ENST00000649607.1:c.3346C>T
ENST00000649775.1:c.1651C>T
ENST00000650226.1:c.5162C>T	ENSP00000496981.1:p.Ser1721Phe
XM_011538080.1:c.5162C>T	XP_011536382.1:p.Ser1721Phe
XM_011538080.2:c.5162C>T	XP_011536382.1:p.Ser1721Phe
XM_011538081.1:c.5159C>T	XP_011536383.1:p.Ser1720Phe
XM_011538081.2:c.5159C>T	XP_011536383.1:p.Ser1720Phe
XM_011538082.1:c.5132C>T	XP_011536384.1:p.Ser1711Phe
XM_011538082.2:c.5132C>T	XP_011536384.1:p.Ser1711Phe
XM_017019090.1:c.5159C>T	XP_016874579.1:p.Ser1720Phe