Canonical Allele Identifier: CA481945934

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982419-A-G
• MyVariant Identifiers: chr12:g.116420224A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982419A>G , CM000674.2:g.115982419A>G	GRCh38
NC_000012.11:g.116420224A>G , CM000674.1:g.116420224A>G	GRCh37
NC_000012.10:g.114904607A>G	NCBI36
NG_023366.1:g.299768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5140T>C MANE Select	ENSP00000281928.3:p.Leu1714=
ENST00000549786.2:c.4568T>C
ENST00000648379.1:n.3508T>C
ENST00000648737.1:n.4904T>C
ENST00000648825.1:n.1880T>C
ENST00000648916.1:n.3151T>C
ENST00000649146.1:n.2383T>C
ENST00000649607.1:c.3324T>C
ENST00000649775.1:c.1629T>C
ENST00000650226.1:c.5140T>C	ENSP00000496981.1:p.Leu1714=
ENST00000281928.7:c.5140T>C	ENSP00000281928.3:p.Leu1714=
ENST00000549786.1:c.504T>C
ENST00000552340.1:c.172T>C	ENSP00000449876.1:p.Leu58=
NM_015335.4:c.5140T>C	NP_056150.1:p.Leu1714=
XM_011538080.1:c.5140T>C	XP_011536382.1:p.Leu1714=
XM_011538081.1:c.5137T>C	XP_011536383.1:p.Leu1713=
XM_011538082.1:c.5110T>C	XP_011536384.1:p.Leu1704=
XM_011538080.2:c.5140T>C	XP_011536382.1:p.Leu1714=
XM_011538081.2:c.5137T>C	XP_011536383.1:p.Leu1713=
XM_011538082.2:c.5110T>C	XP_011536384.1:p.Leu1704=
XM_017019090.1:c.5137T>C	XP_016874579.1:p.Leu1713=
NM_015335.5:c.5140T>C MANE Select	NP_056150.1:p.Leu1714=