Canonical Allele Identifier: CA386876159

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408438C>A (hg19) ; chr12:g.115970633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970633C>A , CM000674.2:g.115970633C>A	GRCh38
NC_000012.11:g.116408438C>A , CM000674.1:g.116408438C>A	GRCh37
NC_000012.10:g.114892821C>A	NCBI36
NG_023366.1:g.311554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6028G>T MANE Select	ENSP00000281928.3:p.Ala2010Ser
ENST00000548784.2:n.2242G>T
ENST00000648379.1:n.4396G>T
ENST00000648737.1:n.5792G>T
ENST00000648825.1:n.4213G>T
ENST00000648916.1:n.4039G>T
ENST00000649607.1:c.4212G>T
ENST00000649775.1:c.2517G>T
ENST00000650226.1:c.6064G>T	ENSP00000496981.1:p.Ala2022Ser
ENST00000281928.7:c.6028G>T	ENSP00000281928.3:p.Ala2010Ser
NM_015335.4:c.6028G>T	NP_056150.1:p.Ala2010Ser
XM_011538080.1:c.6064G>T	XP_011536382.1:p.Ala2022Ser
XM_011538081.1:c.6061G>T	XP_011536383.1:p.Ala2021Ser
XM_011538082.1:c.6034G>T	XP_011536384.1:p.Ala2012Ser
XM_011538080.2:c.6064G>T	XP_011536382.1:p.Ala2022Ser
XM_011538081.2:c.6061G>T	XP_011536383.1:p.Ala2021Ser
XM_011538082.2:c.6034G>T	XP_011536384.1:p.Ala2012Ser
XM_017019090.1:c.6025G>T	XP_016874579.1:p.Ala2009Ser
NM_015335.5:c.6028G>T MANE Select	NP_056150.1:p.Ala2010Ser