Canonical Allele Identifier: CA386874627

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403946G>T (hg19) ; chr12:g.115966141G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966141G>T , CM000674.2:g.115966141G>T	GRCh38
NC_000012.11:g.116403946G>T , CM000674.1:g.116403946G>T	GRCh37
NC_000012.10:g.114888329G>T	NCBI36
NG_023366.1:g.316046C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6328C>A MANE Select	ENSP00000281928.3:p.Pro2110Thr
ENST00000548784.2:n.2542C>A
ENST00000648379.1:n.4696C>A
ENST00000648737.1:n.6092C>A
ENST00000648762.1:n.1018C>A
ENST00000648825.1:n.4513C>A
ENST00000648916.1:n.4339C>A
ENST00000649607.1:c.4512C>A
ENST00000649775.1:c.2659C>A
ENST00000650226.1:c.6364C>A	ENSP00000496981.1:p.Pro2122Thr
ENST00000281928.7:c.6328C>A	ENSP00000281928.3:p.Pro2110Thr
NM_015335.4:c.6328C>A	NP_056150.1:p.Pro2110Thr
XM_011538080.1:c.6364C>A	XP_011536382.1:p.Pro2122Thr
XM_011538081.1:c.6361C>A	XP_011536383.1:p.Pro2121Thr
XM_011538082.1:c.6334C>A	XP_011536384.1:p.Pro2112Thr
XM_011538080.2:c.6364C>A	XP_011536382.1:p.Pro2122Thr
XM_011538081.2:c.6361C>A	XP_011536383.1:p.Pro2121Thr
XM_011538082.2:c.6334C>A	XP_011536384.1:p.Pro2112Thr
XM_017019090.1:c.6325C>A	XP_016874579.1:p.Pro2109Thr
NM_015335.5:c.6328C>A MANE Select	NP_056150.1:p.Pro2110Thr