Canonical Allele Identifier: CA386881373

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420364G>A (hg19) ; chr12:g.115982559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982559G>A , CM000674.2:g.115982559G>A	GRCh38
NC_000012.11:g.116420364G>A , CM000674.1:g.116420364G>A	GRCh37
NC_000012.10:g.114904747G>A	NCBI36
NG_023366.1:g.299628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5000C>T MANE Select	ENSP00000281928.3:p.Ser1667Phe
ENST00000549786.2:c.4428C>T
ENST00000648379.1:n.3368C>T
ENST00000648737.1:n.4764C>T
ENST00000648825.1:n.1740C>T
ENST00000648916.1:n.3011C>T
ENST00000649146.1:n.2243C>T
ENST00000649607.1:c.3184C>T
ENST00000649775.1:c.1489C>T
ENST00000650226.1:c.5000C>T	ENSP00000496981.1:p.Ser1667Phe
ENST00000281928.7:c.5000C>T	ENSP00000281928.3:p.Ser1667Phe
ENST00000549786.1:c.364C>T
ENST00000552340.1:c.32C>T	ENSP00000449876.1:p.Ser11Phe
NM_015335.4:c.5000C>T	NP_056150.1:p.Ser1667Phe
XM_011538080.1:c.5000C>T	XP_011536382.1:p.Ser1667Phe
XM_011538081.1:c.4997C>T	XP_011536383.1:p.Ser1666Phe
XM_011538082.1:c.4970C>T	XP_011536384.1:p.Ser1657Phe
XM_011538080.2:c.5000C>T	XP_011536382.1:p.Ser1667Phe
XM_011538081.2:c.4997C>T	XP_011536383.1:p.Ser1666Phe
XM_011538082.2:c.4970C>T	XP_011536384.1:p.Ser1657Phe
XM_017019090.1:c.4997C>T	XP_016874579.1:p.Ser1666Phe
NM_015335.5:c.5000C>T MANE Select	NP_056150.1:p.Ser1667Phe