Canonical Allele Identifier: CA386882294

Gene: MED13L

Linked Data

• COSMIC: COSM6071313
• MyVariant Identifiers: chr12:g.116420396C>A (hg19) ; chr12:g.115982591C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982591C>A , CM000674.2:g.115982591C>A	GRCh38
NC_000012.11:g.116420396C>A , CM000674.1:g.116420396C>A	GRCh37
NC_000012.10:g.114904779C>A	NCBI36
NG_023366.1:g.299596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4968G>T MANE Select	ENSP00000281928.3:p.Arg1656Ser
ENST00000549786.2:c.4396G>T
ENST00000648379.1:n.3336G>T
ENST00000648737.1:n.4732G>T
ENST00000648825.1:n.1708G>T
ENST00000648916.1:n.2979G>T
ENST00000649146.1:n.2211G>T
ENST00000649607.1:c.3152G>T
ENST00000649775.1:c.1457G>T
ENST00000650226.1:c.4968G>T	ENSP00000496981.1:p.Arg1656Ser
ENST00000281928.7:c.4968G>T	ENSP00000281928.3:p.Arg1656Ser
ENST00000549786.1:c.332G>T
NM_015335.4:c.4968G>T	NP_056150.1:p.Arg1656Ser
XM_011538080.1:c.4968G>T	XP_011536382.1:p.Arg1656Ser
XM_011538081.1:c.4965G>T	XP_011536383.1:p.Arg1655Ser
XM_011538082.1:c.4938G>T	XP_011536384.1:p.Arg1646Ser
XM_011538080.2:c.4968G>T	XP_011536382.1:p.Arg1656Ser
XM_011538081.2:c.4965G>T	XP_011536383.1:p.Arg1655Ser
XM_011538082.2:c.4938G>T	XP_011536384.1:p.Arg1646Ser
XM_017019090.1:c.4965G>T	XP_016874579.1:p.Arg1655Ser
NM_015335.5:c.4968G>T MANE Select	NP_056150.1:p.Arg1656Ser