Canonical Allele Identifier: CA386878481

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413068C>G (hg19) ; chr12:g.115975263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975263C>G , CM000674.2:g.115975263C>G	GRCh38
NC_000012.11:g.116413068C>G , CM000674.1:g.116413068C>G	GRCh37
NC_000012.10:g.114897451C>G	NCBI36
NG_023366.1:g.306924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5639G>C MANE Select	ENSP00000281928.3:p.Trp1880Ser
ENST00000548694.2:n.629G>C
ENST00000648379.1:n.4007G>C
ENST00000648737.1:n.5403G>C
ENST00000648825.1:n.3824G>C
ENST00000648916.1:n.3650G>C
ENST00000649607.1:c.3823G>C
ENST00000649775.1:c.2128G>C
ENST00000650226.1:c.5675G>C	ENSP00000496981.1:p.Trp1892Ser
ENST00000281928.7:c.5639G>C	ENSP00000281928.3:p.Trp1880Ser
ENST00000548694.1:n.629G>C
ENST00000552447.1:c.252G>C
NM_015335.4:c.5639G>C	NP_056150.1:p.Trp1880Ser
XM_011538080.1:c.5675G>C	XP_011536382.1:p.Trp1892Ser
XM_011538081.1:c.5672G>C	XP_011536383.1:p.Trp1891Ser
XM_011538082.1:c.5645G>C	XP_011536384.1:p.Trp1882Ser
XM_011538080.2:c.5675G>C	XP_011536382.1:p.Trp1892Ser
XM_011538081.2:c.5672G>C	XP_011536383.1:p.Trp1891Ser
XM_011538082.2:c.5645G>C	XP_011536384.1:p.Trp1882Ser
XM_017019090.1:c.5636G>C	XP_016874579.1:p.Trp1879Ser
NM_015335.5:c.5639G>C MANE Select	NP_056150.1:p.Trp1880Ser