Canonical Allele Identifier: CA386876147

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408432A>C (hg19) ; chr12:g.115970627A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970627A>C , CM000674.2:g.115970627A>C	GRCh38
NC_000012.11:g.116408432A>C , CM000674.1:g.116408432A>C	GRCh37
NC_000012.10:g.114892815A>C	NCBI36
NG_023366.1:g.311560T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6034T>G MANE Select	ENSP00000281928.3:p.Tyr2012Asp
ENST00000548784.2:n.2248T>G
ENST00000648379.1:n.4402T>G
ENST00000648737.1:n.5798T>G
ENST00000648825.1:n.4219T>G
ENST00000648916.1:n.4045T>G
ENST00000649607.1:c.4218T>G
ENST00000649775.1:c.2523T>G
ENST00000650226.1:c.6070T>G	ENSP00000496981.1:p.Tyr2024Asp
ENST00000281928.7:c.6034T>G	ENSP00000281928.3:p.Tyr2012Asp
NM_015335.4:c.6034T>G	NP_056150.1:p.Tyr2012Asp
XM_011538080.1:c.6070T>G	XP_011536382.1:p.Tyr2024Asp
XM_011538081.1:c.6067T>G	XP_011536383.1:p.Tyr2023Asp
XM_011538082.1:c.6040T>G	XP_011536384.1:p.Tyr2014Asp
XM_011538080.2:c.6070T>G	XP_011536382.1:p.Tyr2024Asp
XM_011538081.2:c.6067T>G	XP_011536383.1:p.Tyr2023Asp
XM_011538082.2:c.6040T>G	XP_011536384.1:p.Tyr2014Asp
XM_017019090.1:c.6031T>G	XP_016874579.1:p.Tyr2011Asp
NM_015335.5:c.6034T>G MANE Select	NP_056150.1:p.Tyr2012Asp