Canonical Allele Identifier: CA386883632

Gene: MED13L

Linked Data

• dbSNP Id: rs1296045737
• MyVariant Identifiers: chr12:g.116422074C>A (hg19) ; chr12:g.115984269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984269C>A , CM000674.2:g.115984269C>A	GRCh38
NC_000012.11:g.116422074C>A , CM000674.1:g.116422074C>A	GRCh37
NC_000012.10:g.114906457C>A	NCBI36
NG_023366.1:g.297918G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4442G>T MANE Select	ENSP00000281928.3:p.Ser1481Ile
ENST00000549786.2:c.3870G>T
ENST00000648379.1:n.2810G>T
ENST00000648737.1:n.4206G>T
ENST00000648825.1:n.1182G>T
ENST00000648916.1:n.2453G>T
ENST00000649146.1:n.1172G>T
ENST00000649607.1:c.2626G>T
ENST00000649775.1:c.939G>T
ENST00000650091.1:n.2418G>T
ENST00000650226.1:c.4442G>T	ENSP00000496981.1:p.Ser1481Ile
ENST00000281928.7:c.4442G>T	ENSP00000281928.3:p.Ser1481Ile
NM_015335.4:c.4442G>T	NP_056150.1:p.Ser1481Ile
XM_011538080.1:c.4442G>T	XP_011536382.1:p.Ser1481Ile
XM_011538081.1:c.4439G>T	XP_011536383.1:p.Ser1480Ile
XM_011538082.1:c.4412G>T	XP_011536384.1:p.Ser1471Ile
XM_011538080.2:c.4442G>T	XP_011536382.1:p.Ser1481Ile
XM_011538081.2:c.4439G>T	XP_011536383.1:p.Ser1480Ile
XM_011538082.2:c.4412G>T	XP_011536384.1:p.Ser1471Ile
XM_017019090.1:c.4439G>T	XP_016874579.1:p.Ser1480Ile
NM_015335.5:c.4442G>T MANE Select	NP_056150.1:p.Ser1481Ile