Canonical Allele Identifier: CA481943133

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408406G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970601G>C , CM000674.2:g.115970601G>C	GRCh38
NC_000012.11:g.116408406G>C , CM000674.1:g.116408406G>C	GRCh37
NC_000012.10:g.114892789G>C	NCBI36
NG_023366.1:g.311586C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6060C>G MANE Select	ENSP00000281928.3:p.Pro2020=
ENST00000548784.2:n.2274C>G
ENST00000648379.1:n.4428C>G
ENST00000648737.1:n.5824C>G
ENST00000648825.1:n.4245C>G
ENST00000648916.1:n.4071C>G
ENST00000649607.1:c.4244C>G
ENST00000649775.1:c.2549C>G
ENST00000650226.1:c.6096C>G	ENSP00000496981.1:p.Pro2032=
ENST00000281928.7:c.6060C>G	ENSP00000281928.3:p.Pro2020=
NM_015335.4:c.6060C>G	NP_056150.1:p.Pro2020=
XM_011538080.1:c.6096C>G	XP_011536382.1:p.Pro2032=
XM_011538081.1:c.6093C>G	XP_011536383.1:p.Pro2031=
XM_011538082.1:c.6066C>G	XP_011536384.1:p.Pro2022=
XM_011538080.2:c.6096C>G	XP_011536382.1:p.Pro2032=
XM_011538081.2:c.6093C>G	XP_011536383.1:p.Pro2031=
XM_011538082.2:c.6066C>G	XP_011536384.1:p.Pro2022=
XM_017019090.1:c.6057C>G	XP_016874579.1:p.Pro2019=
NM_015335.5:c.6060C>G MANE Select	NP_056150.1:p.Pro2020=