Canonical Allele Identifier: CA481946495

Gene: MED13L

Linked Data

• ClinVar Variation Id: 730094
• ClinVar RCV Id: RCV000904846
• dbSNP Id: rs1592913487
• MyVariant Identifiers: chr12:g.116420324G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982519G>A , CM000674.2:g.115982519G>A	GRCh38
NC_000012.11:g.116420324G>A , CM000674.1:g.116420324G>A	GRCh37
NC_000012.10:g.114904707G>A	NCBI36
NG_023366.1:g.299668C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5040C>T MANE Select	ENSP00000281928.3:p.Tyr1680=
ENST00000549786.2:c.4468C>T
ENST00000648379.1:n.3408C>T
ENST00000648737.1:n.4804C>T
ENST00000648825.1:n.1780C>T
ENST00000648916.1:n.3051C>T
ENST00000649146.1:n.2283C>T
ENST00000649607.1:c.3224C>T
ENST00000649775.1:c.1529C>T
ENST00000650226.1:c.5040C>T	ENSP00000496981.1:p.Tyr1680=
ENST00000281928.7:c.5040C>T	ENSP00000281928.3:p.Tyr1680=
ENST00000549786.1:c.404C>T
ENST00000552340.1:c.72C>T	ENSP00000449876.1:p.Tyr24=
NM_015335.4:c.5040C>T	NP_056150.1:p.Tyr1680=
XM_011538080.1:c.5040C>T	XP_011536382.1:p.Tyr1680=
XM_011538081.1:c.5037C>T	XP_011536383.1:p.Tyr1679=
XM_011538082.1:c.5010C>T	XP_011536384.1:p.Tyr1670=
XM_011538080.2:c.5040C>T	XP_011536382.1:p.Tyr1680=
XM_011538081.2:c.5037C>T	XP_011536383.1:p.Tyr1679=
XM_011538082.2:c.5010C>T	XP_011536384.1:p.Tyr1670=
XM_017019090.1:c.5037C>T	XP_016874579.1:p.Tyr1679=
NM_015335.5:c.5040C>T MANE Select	NP_056150.1:p.Tyr1680=