Canonical Allele Identifier: CA386874605

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403942T>G (hg19) ; chr12:g.115966137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966137T>G , CM000674.2:g.115966137T>G	GRCh38
NC_000012.11:g.116403942T>G , CM000674.1:g.116403942T>G	GRCh37
NC_000012.10:g.114888325T>G	NCBI36
NG_023366.1:g.316050A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6332A>C MANE Select	ENSP00000281928.3:p.Gln2111Pro
ENST00000548784.2:n.2546A>C
ENST00000648379.1:n.4700A>C
ENST00000648737.1:n.6096A>C
ENST00000648762.1:n.1022A>C
ENST00000648825.1:n.4517A>C
ENST00000648916.1:n.4343A>C
ENST00000649607.1:c.4516A>C
ENST00000649775.1:c.2663A>C
ENST00000650226.1:c.6368A>C	ENSP00000496981.1:p.Gln2123Pro
ENST00000281928.7:c.6332A>C	ENSP00000281928.3:p.Gln2111Pro
NM_015335.4:c.6332A>C	NP_056150.1:p.Gln2111Pro
XM_011538080.1:c.6368A>C	XP_011536382.1:p.Gln2123Pro
XM_011538081.1:c.6365A>C	XP_011536383.1:p.Gln2122Pro
XM_011538082.1:c.6338A>C	XP_011536384.1:p.Gln2113Pro
XM_011538080.2:c.6368A>C	XP_011536382.1:p.Gln2123Pro
XM_011538081.2:c.6365A>C	XP_011536383.1:p.Gln2122Pro
XM_011538082.2:c.6338A>C	XP_011536384.1:p.Gln2113Pro
XM_017019090.1:c.6329A>C	XP_016874579.1:p.Gln2110Pro
NM_015335.5:c.6332A>C MANE Select	NP_056150.1:p.Gln2111Pro