Canonical Allele Identifier: CA386876121

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408422T>C (hg19) ; chr12:g.115970617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970617T>C , CM000674.2:g.115970617T>C	GRCh38
NC_000012.11:g.116408422T>C , CM000674.1:g.116408422T>C	GRCh37
NC_000012.10:g.114892805T>C	NCBI36
NG_023366.1:g.311570A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6044A>G MANE Select	ENSP00000281928.3:p.Glu2015Gly
ENST00000548784.2:n.2258A>G
ENST00000648379.1:n.4412A>G
ENST00000648737.1:n.5808A>G
ENST00000648825.1:n.4229A>G
ENST00000648916.1:n.4055A>G
ENST00000649607.1:c.4228A>G
ENST00000649775.1:c.2533A>G
ENST00000650226.1:c.6080A>G	ENSP00000496981.1:p.Glu2027Gly
ENST00000281928.7:c.6044A>G	ENSP00000281928.3:p.Glu2015Gly
NM_015335.4:c.6044A>G	NP_056150.1:p.Glu2015Gly
XM_011538080.1:c.6080A>G	XP_011536382.1:p.Glu2027Gly
XM_011538081.1:c.6077A>G	XP_011536383.1:p.Glu2026Gly
XM_011538082.1:c.6050A>G	XP_011536384.1:p.Glu2017Gly
XM_011538080.2:c.6080A>G	XP_011536382.1:p.Glu2027Gly
XM_011538081.2:c.6077A>G	XP_011536383.1:p.Glu2026Gly
XM_011538082.2:c.6050A>G	XP_011536384.1:p.Glu2017Gly
XM_017019090.1:c.6041A>G	XP_016874579.1:p.Glu2014Gly
NM_015335.5:c.6044A>G MANE Select	NP_056150.1:p.Glu2015Gly