Canonical Allele Identifier: CA386881200

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420287A>C (hg19) ; chr12:g.115982482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982482A>C , CM000674.2:g.115982482A>C	GRCh38
NC_000012.11:g.116420287A>C , CM000674.1:g.116420287A>C	GRCh37
NC_000012.10:g.114904670A>C	NCBI36
NG_023366.1:g.299705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5077T>G MANE Select	ENSP00000281928.3:p.Ser1693Ala
ENST00000549786.2:c.4505T>G
ENST00000648379.1:n.3445T>G
ENST00000648737.1:n.4841T>G
ENST00000648825.1:n.1817T>G
ENST00000648916.1:n.3088T>G
ENST00000649146.1:n.2320T>G
ENST00000649607.1:c.3261T>G
ENST00000649775.1:c.1566T>G
ENST00000650226.1:c.5077T>G	ENSP00000496981.1:p.Ser1693Ala
ENST00000281928.7:c.5077T>G	ENSP00000281928.3:p.Ser1693Ala
ENST00000549786.1:c.441T>G
ENST00000552340.1:c.109T>G	ENSP00000449876.1:p.Ser37Ala
NM_015335.4:c.5077T>G	NP_056150.1:p.Ser1693Ala
XM_011538080.1:c.5077T>G	XP_011536382.1:p.Ser1693Ala
XM_011538081.1:c.5074T>G	XP_011536383.1:p.Ser1692Ala
XM_011538082.1:c.5047T>G	XP_011536384.1:p.Ser1683Ala
XM_011538080.2:c.5077T>G	XP_011536382.1:p.Ser1693Ala
XM_011538081.2:c.5074T>G	XP_011536383.1:p.Ser1692Ala
XM_011538082.2:c.5047T>G	XP_011536384.1:p.Ser1683Ala
XM_017019090.1:c.5074T>G	XP_016874579.1:p.Ser1692Ala
NM_015335.5:c.5077T>G MANE Select	NP_056150.1:p.Ser1693Ala