Canonical Allele Identifier: CA386881323

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982536-G-A
• MyVariant Identifiers: chr12:g.116420341G>A (hg19) ; chr12:g.115982536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982536G>A , CM000674.2:g.115982536G>A	GRCh38
NC_000012.11:g.116420341G>A , CM000674.1:g.116420341G>A	GRCh37
NC_000012.10:g.114904724G>A	NCBI36
NG_023366.1:g.299651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5023C>T MANE Select	ENSP00000281928.3:p.Pro1675Ser
ENST00000549786.2:c.4451C>T
ENST00000648379.1:n.3391C>T
ENST00000648737.1:n.4787C>T
ENST00000648825.1:n.1763C>T
ENST00000648916.1:n.3034C>T
ENST00000649146.1:n.2266C>T
ENST00000649607.1:c.3207C>T
ENST00000649775.1:c.1512C>T
ENST00000650226.1:c.5023C>T	ENSP00000496981.1:p.Pro1675Ser
ENST00000281928.7:c.5023C>T	ENSP00000281928.3:p.Pro1675Ser
ENST00000549786.1:c.387C>T
ENST00000552340.1:c.55C>T	ENSP00000449876.1:p.Pro19Ser
NM_015335.4:c.5023C>T	NP_056150.1:p.Pro1675Ser
XM_011538080.1:c.5023C>T	XP_011536382.1:p.Pro1675Ser
XM_011538081.1:c.5020C>T	XP_011536383.1:p.Pro1674Ser
XM_011538082.1:c.4993C>T	XP_011536384.1:p.Pro1665Ser
XM_011538080.2:c.5023C>T	XP_011536382.1:p.Pro1675Ser
XM_011538081.2:c.5020C>T	XP_011536383.1:p.Pro1674Ser
XM_011538082.2:c.4993C>T	XP_011536384.1:p.Pro1665Ser
XM_017019090.1:c.5020C>T	XP_016874579.1:p.Pro1674Ser
NM_015335.5:c.5023C>T MANE Select	NP_056150.1:p.Pro1675Ser