Canonical Allele Identifier: CA386881376

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420365A>T (hg19) ; chr12:g.115982560A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982560A>T , CM000674.2:g.115982560A>T	GRCh38
NC_000012.11:g.116420365A>T , CM000674.1:g.116420365A>T	GRCh37
NC_000012.10:g.114904748A>T	NCBI36
NG_023366.1:g.299627T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4999T>A MANE Select	ENSP00000281928.3:p.Ser1667Thr
ENST00000549786.2:c.4427T>A
ENST00000648379.1:n.3367T>A
ENST00000648737.1:n.4763T>A
ENST00000648825.1:n.1739T>A
ENST00000648916.1:n.3010T>A
ENST00000649146.1:n.2242T>A
ENST00000649607.1:c.3183T>A
ENST00000649775.1:c.1488T>A
ENST00000650226.1:c.4999T>A	ENSP00000496981.1:p.Ser1667Thr
ENST00000281928.7:c.4999T>A	ENSP00000281928.3:p.Ser1667Thr
ENST00000549786.1:c.363T>A
ENST00000552340.1:c.31T>A	ENSP00000449876.1:p.Ser11Thr
NM_015335.4:c.4999T>A	NP_056150.1:p.Ser1667Thr
XM_011538080.1:c.4999T>A	XP_011536382.1:p.Ser1667Thr
XM_011538081.1:c.4996T>A	XP_011536383.1:p.Ser1666Thr
XM_011538082.1:c.4969T>A	XP_011536384.1:p.Ser1657Thr
XM_011538080.2:c.4999T>A	XP_011536382.1:p.Ser1667Thr
XM_011538081.2:c.4996T>A	XP_011536383.1:p.Ser1666Thr
XM_011538082.2:c.4969T>A	XP_011536384.1:p.Ser1657Thr
XM_017019090.1:c.4996T>A	XP_016874579.1:p.Ser1666Thr
NM_015335.5:c.4999T>A MANE Select	NP_056150.1:p.Ser1667Thr