Canonical Allele Identifier: CA386881245

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420305A>G (hg19) ; chr12:g.115982500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982500A>G , CM000674.2:g.115982500A>G	GRCh38
NC_000012.11:g.116420305A>G , CM000674.1:g.116420305A>G	GRCh37
NC_000012.10:g.114904688A>G	NCBI36
NG_023366.1:g.299687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5059T>C MANE Select	ENSP00000281928.3:p.Tyr1687His
ENST00000549786.2:c.4487T>C
ENST00000648379.1:n.3427T>C
ENST00000648737.1:n.4823T>C
ENST00000648825.1:n.1799T>C
ENST00000648916.1:n.3070T>C
ENST00000649146.1:n.2302T>C
ENST00000649607.1:c.3243T>C
ENST00000649775.1:c.1548T>C
ENST00000650226.1:c.5059T>C	ENSP00000496981.1:p.Tyr1687His
ENST00000281928.7:c.5059T>C	ENSP00000281928.3:p.Tyr1687His
ENST00000549786.1:c.423T>C
ENST00000552340.1:c.91T>C	ENSP00000449876.1:p.Tyr31His
NM_015335.4:c.5059T>C	NP_056150.1:p.Tyr1687His
XM_011538080.1:c.5059T>C	XP_011536382.1:p.Tyr1687His
XM_011538081.1:c.5056T>C	XP_011536383.1:p.Tyr1686His
XM_011538082.1:c.5029T>C	XP_011536384.1:p.Tyr1677His
XM_011538080.2:c.5059T>C	XP_011536382.1:p.Tyr1687His
XM_011538081.2:c.5056T>C	XP_011536383.1:p.Tyr1686His
XM_011538082.2:c.5029T>C	XP_011536384.1:p.Tyr1677His
XM_017019090.1:c.5056T>C	XP_016874579.1:p.Tyr1686His
NM_015335.5:c.5059T>C MANE Select	NP_056150.1:p.Tyr1687His