Canonical Allele Identifier: CA6810766

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983465G>A , CM000674.2:g.115983465G>A	GRCh38
NC_000012.11:g.116421270G>A , CM000674.1:g.116421270G>A	GRCh37
NC_000012.10:g.114905653G>A	NCBI36
NG_023366.1:g.298722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4607C>T MANE Select	ENSP00000281928.3:p.Ala1536Val
ENST00000549786.2:c.4035C>T
ENST00000648379.1:n.2975C>T
ENST00000648737.1:n.4371C>T
ENST00000648825.1:n.1347C>T
ENST00000648916.1:n.2618C>T
ENST00000649146.1:n.1337C>T
ENST00000649607.1:c.2791C>T
ENST00000649775.1:c.1104C>T
ENST00000650226.1:c.4607C>T	ENSP00000496981.1:p.Ala1536Val
ENST00000281928.7:c.4607C>T	ENSP00000281928.3:p.Ala1536Val
NM_015335.4:c.4607C>T	NP_056150.1:p.Ala1536Val
XM_011538080.1:c.4607C>T	XP_011536382.1:p.Ala1536Val
XM_011538081.1:c.4604C>T	XP_011536383.1:p.Ala1535Val
XM_011538082.1:c.4577C>T	XP_011536384.1:p.Ala1526Val
XM_011538080.2:c.4607C>T	XP_011536382.1:p.Ala1536Val
XM_011538081.2:c.4604C>T	XP_011536383.1:p.Ala1535Val
XM_011538082.2:c.4577C>T	XP_011536384.1:p.Ala1526Val
XM_017019090.1:c.4604C>T	XP_016874579.1:p.Ala1535Val
NM_015335.5:c.4607C>T MANE Select	NP_056150.1:p.Ala1536Val