Canonical Allele Identifier: CA386874629

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403948A>G (hg19) ; chr12:g.115966143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966143A>G , CM000674.2:g.115966143A>G	GRCh38
NC_000012.11:g.116403948A>G , CM000674.1:g.116403948A>G	GRCh37
NC_000012.10:g.114888331A>G	NCBI36
NG_023366.1:g.316044T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6326T>C MANE Select	ENSP00000281928.3:p.Leu2109Pro
ENST00000548784.2:n.2540T>C
ENST00000648379.1:n.4694T>C
ENST00000648737.1:n.6090T>C
ENST00000648762.1:n.1016T>C
ENST00000648825.1:n.4511T>C
ENST00000648916.1:n.4337T>C
ENST00000649607.1:c.4510T>C
ENST00000649775.1:c.2657T>C
ENST00000650226.1:c.6362T>C	ENSP00000496981.1:p.Leu2121Pro
ENST00000281928.7:c.6326T>C	ENSP00000281928.3:p.Leu2109Pro
NM_015335.4:c.6326T>C	NP_056150.1:p.Leu2109Pro
XM_011538080.1:c.6362T>C	XP_011536382.1:p.Leu2121Pro
XM_011538081.1:c.6359T>C	XP_011536383.1:p.Leu2120Pro
XM_011538082.1:c.6332T>C	XP_011536384.1:p.Leu2111Pro
XM_011538080.2:c.6362T>C	XP_011536382.1:p.Leu2121Pro
XM_011538081.2:c.6359T>C	XP_011536383.1:p.Leu2120Pro
XM_011538082.2:c.6332T>C	XP_011536384.1:p.Leu2111Pro
XM_017019090.1:c.6323T>C	XP_016874579.1:p.Leu2108Pro
NM_015335.5:c.6326T>C MANE Select	NP_056150.1:p.Leu2109Pro