Canonical Allele Identifier: CA6810925

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991088G>A , CM000674.2:g.115991088G>A	GRCh38
NC_000012.11:g.116428893G>A , CM000674.1:g.116428893G>A	GRCh37
NC_000012.10:g.114913276G>A	NCBI36
NG_023366.1:g.291099C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.3866C>T MANE Select	NP_056150.1:p.Pro1289Leu
ENST00000281928.9:c.3866C>T MANE Select	ENSP00000281928.3:p.Pro1289Leu
NM_015335.4:c.3866C>T	NP_056150.1:p.Pro1289Leu
ENST00000281928.7:c.3866C>T	ENSP00000281928.3:p.Pro1289Leu
ENST00000549786.2:c.3294C>T
ENST00000648379.1:n.2234C>T
ENST00000648737.1:n.3630C>T
ENST00000648825.1:n.606C>T
ENST00000648916.1:n.1877C>T
ENST00000649607.1:c.2050C>T
ENST00000649775.1:c.363C>T
ENST00000650226.1:c.3866C>T	ENSP00000496981.1:p.Pro1289Leu
XM_011538080.1:c.3866C>T	XP_011536382.1:p.Pro1289Leu
XM_011538080.2:c.3866C>T	XP_011536382.1:p.Pro1289Leu
XM_011538081.1:c.3863C>T	XP_011536383.1:p.Pro1288Leu
XM_011538081.2:c.3863C>T	XP_011536383.1:p.Pro1288Leu
XM_011538082.1:c.3836C>T	XP_011536384.1:p.Pro1279Leu
XM_011538082.2:c.3836C>T	XP_011536384.1:p.Pro1279Leu
XM_017019090.1:c.3863C>T	XP_016874579.1:p.Pro1288Leu