Canonical Allele Identifier: CA386883768

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2634411
• ClinVar RCV Id: RCV004531710
• MyVariant Identifiers: chr12:g.116422137A>G (hg19) ; chr12:g.115984332A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984332A>G , CM000674.2:g.115984332A>G	GRCh38
NC_000012.11:g.116422137A>G , CM000674.1:g.116422137A>G	GRCh37
NC_000012.10:g.114906520A>G	NCBI36
NG_023366.1:g.297855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4379T>C MANE Select	ENSP00000281928.3:p.Leu1460Pro
ENST00000549786.2:c.3807T>C
ENST00000648379.1:n.2747T>C
ENST00000648737.1:n.4143T>C
ENST00000648825.1:n.1119T>C
ENST00000648916.1:n.2390T>C
ENST00000649146.1:n.1109T>C
ENST00000649607.1:c.2563T>C
ENST00000649775.1:c.876T>C
ENST00000650091.1:n.2355T>C
ENST00000650226.1:c.4379T>C	ENSP00000496981.1:p.Leu1460Pro
ENST00000281928.7:c.4379T>C	ENSP00000281928.3:p.Leu1460Pro
NM_015335.4:c.4379T>C	NP_056150.1:p.Leu1460Pro
XM_011538080.1:c.4379T>C	XP_011536382.1:p.Leu1460Pro
XM_011538081.1:c.4376T>C	XP_011536383.1:p.Leu1459Pro
XM_011538082.1:c.4349T>C	XP_011536384.1:p.Leu1450Pro
XM_011538080.2:c.4379T>C	XP_011536382.1:p.Leu1460Pro
XM_011538081.2:c.4376T>C	XP_011536383.1:p.Leu1459Pro
XM_011538082.2:c.4349T>C	XP_011536384.1:p.Leu1450Pro
XM_017019090.1:c.4376T>C	XP_016874579.1:p.Leu1459Pro
NM_015335.5:c.4379T>C MANE Select	NP_056150.1:p.Leu1460Pro