Canonical Allele Identifier: CA386881087

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420236T>C (hg19) ; chr12:g.115982431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982431T>C , CM000674.2:g.115982431T>C	GRCh38
NC_000012.11:g.116420236T>C , CM000674.1:g.116420236T>C	GRCh37
NC_000012.10:g.114904619T>C	NCBI36
NG_023366.1:g.299756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5128A>G MANE Select	ENSP00000281928.3:p.Met1710Val
ENST00000549786.2:c.4556A>G
ENST00000648379.1:n.3496A>G
ENST00000648737.1:n.4892A>G
ENST00000648825.1:n.1868A>G
ENST00000648916.1:n.3139A>G
ENST00000649146.1:n.2371A>G
ENST00000649607.1:c.3312A>G
ENST00000649775.1:c.1617A>G
ENST00000650226.1:c.5128A>G	ENSP00000496981.1:p.Met1710Val
ENST00000281928.7:c.5128A>G	ENSP00000281928.3:p.Met1710Val
ENST00000549786.1:c.492A>G
ENST00000552340.1:c.160A>G	ENSP00000449876.1:p.Met54Val
NM_015335.4:c.5128A>G	NP_056150.1:p.Met1710Val
XM_011538080.1:c.5128A>G	XP_011536382.1:p.Met1710Val
XM_011538081.1:c.5125A>G	XP_011536383.1:p.Met1709Val
XM_011538082.1:c.5098A>G	XP_011536384.1:p.Met1700Val
XM_011538080.2:c.5128A>G	XP_011536382.1:p.Met1710Val
XM_011538081.2:c.5125A>G	XP_011536383.1:p.Met1709Val
XM_011538082.2:c.5098A>G	XP_011536384.1:p.Met1700Val
XM_017019090.1:c.5125A>G	XP_016874579.1:p.Met1709Val
NM_015335.5:c.5128A>G MANE Select	NP_056150.1:p.Met1710Val