Canonical Allele Identifier: CA481945198

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413328T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975523T>C , CM000674.2:g.115975523T>C	GRCh38
NC_000012.11:g.116413328T>C , CM000674.1:g.116413328T>C	GRCh37
NC_000012.10:g.114897711T>C	NCBI36
NG_023366.1:g.306664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5580A>G MANE Select	ENSP00000281928.3:p.Leu1860=
ENST00000548694.2:n.369A>G
ENST00000648379.1:n.3948A>G
ENST00000648737.1:n.5344A>G
ENST00000648825.1:n.3765A>G
ENST00000648916.1:n.3591A>G
ENST00000649607.1:c.3764A>G
ENST00000649775.1:c.2069A>G
ENST00000650226.1:c.5580A>G	ENSP00000496981.1:p.Leu1860=
ENST00000281928.7:c.5580A>G	ENSP00000281928.3:p.Leu1860=
ENST00000548694.1:n.369A>G
ENST00000552447.1:c.157A>G
NM_015335.4:c.5580A>G	NP_056150.1:p.Leu1860=
XM_011538080.1:c.5580A>G	XP_011536382.1:p.Leu1860=
XM_011538081.1:c.5577A>G	XP_011536383.1:p.Leu1859=
XM_011538082.1:c.5550A>G	XP_011536384.1:p.Leu1850=
XM_011538080.2:c.5580A>G	XP_011536382.1:p.Leu1860=
XM_011538081.2:c.5577A>G	XP_011536383.1:p.Leu1859=
XM_011538082.2:c.5550A>G	XP_011536384.1:p.Leu1850=
XM_017019090.1:c.5577A>G	XP_016874579.1:p.Leu1859=
NM_015335.5:c.5580A>G MANE Select	NP_056150.1:p.Leu1860=