Canonical Allele Identifier: CA684018373

Gene: MED13L

Linked Data

• dbSNP Id: rs1279620861
• MyVariant Identifiers: chr12:g.116420534T>G (hg19) ; chr12:g.115982729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982729T>G , CM000674.2:g.115982729T>G	GRCh38
NC_000012.11:g.116420534T>G , CM000674.1:g.116420534T>G	GRCh37
NC_000012.10:g.114904917T>G	NCBI36
NG_023366.1:g.299458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4956-126A>C MANE Select	ENSP00000281928.3:n.4956-126A>C
ENST00000549786.2:c.4384-126A>C
ENST00000648379.1:n.3324-126A>C
ENST00000648737.1:n.4720-126A>C
ENST00000648825.1:n.1696-126A>C
ENST00000648916.1:n.2967-126A>C
ENST00000649146.1:n.2073A>C
ENST00000649607.1:c.3140-126A>C
ENST00000649775.1:c.1453-134A>C
ENST00000650226.1:c.4956-126A>C	ENSP00000496981.1:n.4956-126A>C
ENST00000281928.7:c.4956-126A>C	ENSP00000281928.3:n.4956-126A>C
ENST00000549786.1:c.320-126A>C
NM_015335.4:c.4956-126A>C	NP_056150.1:n.4956-126A>C
XM_011538080.1:c.4956-126A>C	XP_011536382.1:n.4956-126A>C
XM_011538081.1:c.4953-126A>C	XP_011536383.1:n.4953-126A>C
XM_011538082.1:c.4926-126A>C	XP_011536384.1:n.4926-126A>C
XM_011538080.2:c.4956-126A>C	XP_011536382.1:n.4956-126A>C
XM_011538081.2:c.4953-126A>C	XP_011536383.1:n.4953-126A>C
XM_011538082.2:c.4926-126A>C	XP_011536384.1:n.4926-126A>C
XM_017019090.1:c.4953-126A>C	XP_016874579.1:n.4953-126A>C
NM_015335.5:c.4956-126A>C MANE Select	NP_056150.1:n.4956-126A>C