Canonical Allele Identifier: CA6810746

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983375G>A , CM000674.2:g.115983375G>A	GRCh38
NC_000012.11:g.116421180G>A , CM000674.1:g.116421180G>A	GRCh37
NC_000012.10:g.114905563G>A	NCBI36
NG_023366.1:g.298812C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.4697C>T MANE Select	NP_056150.1:p.Ser1566Leu
ENST00000281928.9:c.4697C>T MANE Select	ENSP00000281928.3:p.Ser1566Leu
NM_015335.4:c.4697C>T	NP_056150.1:p.Ser1566Leu
ENST00000281928.7:c.4697C>T	ENSP00000281928.3:p.Ser1566Leu
ENST00000549786.1:c.61C>T
ENST00000549786.2:c.4125C>T
ENST00000648379.1:n.3065C>T
ENST00000648737.1:n.4461C>T
ENST00000648825.1:n.1437C>T
ENST00000648916.1:n.2708C>T
ENST00000649146.1:n.1427C>T
ENST00000649607.1:c.2881C>T
ENST00000649775.1:c.1194C>T
ENST00000650226.1:c.4697C>T	ENSP00000496981.1:p.Ser1566Leu
XM_011538080.1:c.4697C>T	XP_011536382.1:p.Ser1566Leu
XM_011538080.2:c.4697C>T	XP_011536382.1:p.Ser1566Leu
XM_011538081.1:c.4694C>T	XP_011536383.1:p.Ser1565Leu
XM_011538081.2:c.4694C>T	XP_011536383.1:p.Ser1565Leu
XM_011538082.1:c.4667C>T	XP_011536384.1:p.Ser1556Leu
XM_011538082.2:c.4667C>T	XP_011536384.1:p.Ser1556Leu
XM_017019090.1:c.4694C>T	XP_016874579.1:p.Ser1565Leu