Canonical Allele Identifier: CA386882290

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982590-C-T
• MyVariant Identifiers: chr12:g.116420395C>T (hg19) ; chr12:g.115982590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982590C>T , CM000674.2:g.115982590C>T	GRCh38
NC_000012.11:g.116420395C>T , CM000674.1:g.116420395C>T	GRCh37
NC_000012.10:g.114904778C>T	NCBI36
NG_023366.1:g.299597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4969G>A MANE Select	ENSP00000281928.3:p.Glu1657Lys
ENST00000549786.2:c.4397G>A
ENST00000648379.1:n.3337G>A
ENST00000648737.1:n.4733G>A
ENST00000648825.1:n.1709G>A
ENST00000648916.1:n.2980G>A
ENST00000649146.1:n.2212G>A
ENST00000649607.1:c.3153G>A
ENST00000649775.1:c.1458G>A
ENST00000650226.1:c.4969G>A	ENSP00000496981.1:p.Glu1657Lys
ENST00000281928.7:c.4969G>A	ENSP00000281928.3:p.Glu1657Lys
ENST00000549786.1:c.333G>A
ENST00000552340.1:c.1G>A	ENSP00000449876.1:p.Glu1Lys
NM_015335.4:c.4969G>A	NP_056150.1:p.Glu1657Lys
XM_011538080.1:c.4969G>A	XP_011536382.1:p.Glu1657Lys
XM_011538081.1:c.4966G>A	XP_011536383.1:p.Glu1656Lys
XM_011538082.1:c.4939G>A	XP_011536384.1:p.Glu1647Lys
XM_011538080.2:c.4969G>A	XP_011536382.1:p.Glu1657Lys
XM_011538081.2:c.4966G>A	XP_011536383.1:p.Glu1656Lys
XM_011538082.2:c.4939G>A	XP_011536384.1:p.Glu1647Lys
XM_017019090.1:c.4966G>A	XP_016874579.1:p.Glu1656Lys
NM_015335.5:c.4969G>A MANE Select	NP_056150.1:p.Glu1657Lys