Canonical Allele Identifier: CA481946398

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982501-C-G
• MyVariant Identifiers: chr12:g.116420306C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982501C>G , CM000674.2:g.115982501C>G	GRCh38
NC_000012.11:g.116420306C>G , CM000674.1:g.116420306C>G	GRCh37
NC_000012.10:g.114904689C>G	NCBI36
NG_023366.1:g.299686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5058G>C MANE Select	ENSP00000281928.3:p.Thr1686=
ENST00000549786.2:c.4486G>C
ENST00000648379.1:n.3426G>C
ENST00000648737.1:n.4822G>C
ENST00000648825.1:n.1798G>C
ENST00000648916.1:n.3069G>C
ENST00000649146.1:n.2301G>C
ENST00000649607.1:c.3242G>C
ENST00000649775.1:c.1547G>C
ENST00000650226.1:c.5058G>C	ENSP00000496981.1:p.Thr1686=
ENST00000281928.7:c.5058G>C	ENSP00000281928.3:p.Thr1686=
ENST00000549786.1:c.422G>C
ENST00000552340.1:c.90G>C	ENSP00000449876.1:p.Thr30=
NM_015335.4:c.5058G>C	NP_056150.1:p.Thr1686=
XM_011538080.1:c.5058G>C	XP_011536382.1:p.Thr1686=
XM_011538081.1:c.5055G>C	XP_011536383.1:p.Thr1685=
XM_011538082.1:c.5028G>C	XP_011536384.1:p.Thr1676=
XM_011538080.2:c.5058G>C	XP_011536382.1:p.Thr1686=
XM_011538081.2:c.5055G>C	XP_011536383.1:p.Thr1685=
XM_011538082.2:c.5028G>C	XP_011536384.1:p.Thr1676=
XM_017019090.1:c.5055G>C	XP_016874579.1:p.Thr1685=
NM_015335.5:c.5058G>C MANE Select	NP_056150.1:p.Thr1686=