Canonical Allele Identifier: CA6810437

Gene: MED13L

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115969105G>A , CM000674.2:g.115969105G>A	GRCh38
NC_000012.11:g.116406910G>A , CM000674.1:g.116406910G>A	GRCh37
NC_000012.10:g.114891293G>A	NCBI36
NG_023366.1:g.313082C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015335.5:c.6068-8C>T MANE Select	NP_056150.1:n.6068-8C>T
ENST00000281928.9:c.6068-8C>T MANE Select	ENSP00000281928.3:n.6068-8C>T
NM_015335.4:c.6068-8C>T	NP_056150.1:n.6068-8C>T
ENST00000281928.7:c.6068-8C>T	ENSP00000281928.3:n.6068-8C>T
ENST00000548784.2:n.2282-8C>T
ENST00000648379.1:n.4436-8C>T
ENST00000648737.1:n.5832-8C>T
ENST00000648825.1:n.4253-8C>T
ENST00000648916.1:n.4079-8C>T
ENST00000649607.1:c.4252-8C>T
ENST00000649775.1:c.2556+1489C>T
ENST00000650226.1:c.6104-8C>T	ENSP00000496981.1:n.6104-8C>T
XM_011538080.1:c.6104-8C>T	XP_011536382.1:n.6104-8C>T
XM_011538080.2:c.6104-8C>T	XP_011536382.1:n.6104-8C>T
XM_011538081.1:c.6101-8C>T	XP_011536383.1:n.6101-8C>T
XM_011538081.2:c.6101-8C>T	XP_011536383.1:n.6101-8C>T
XM_011538082.1:c.6074-8C>T	XP_011536384.1:n.6074-8C>T
XM_011538082.2:c.6074-8C>T	XP_011536384.1:n.6074-8C>T
XM_017019090.1:c.6065-8C>T	XP_016874579.1:n.6065-8C>T