Canonical Allele Identifier: CA386881357

Gene: MED13L

Linked Data

• dbSNP Id: rs1176230856
• gnomAD v3: 12-115982551-T-C
• gnomAD v4: 12-115982551-T-C
• MyVariant Identifiers: chr12:g.116420356T>C (hg19) ; chr12:g.115982551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982551T>C , CM000674.2:g.115982551T>C	GRCh38
NC_000012.11:g.116420356T>C , CM000674.1:g.116420356T>C	GRCh37
NC_000012.10:g.114904739T>C	NCBI36
NG_023366.1:g.299636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5008A>G MANE Select	ENSP00000281928.3:p.Ser1670Gly
ENST00000549786.2:c.4436A>G
ENST00000648379.1:n.3376A>G
ENST00000648737.1:n.4772A>G
ENST00000648825.1:n.1748A>G
ENST00000648916.1:n.3019A>G
ENST00000649146.1:n.2251A>G
ENST00000649607.1:c.3192A>G
ENST00000649775.1:c.1497A>G
ENST00000650226.1:c.5008A>G	ENSP00000496981.1:p.Ser1670Gly
ENST00000281928.7:c.5008A>G	ENSP00000281928.3:p.Ser1670Gly
ENST00000549786.1:c.372A>G
ENST00000552340.1:c.40A>G	ENSP00000449876.1:p.Ser14Gly
NM_015335.4:c.5008A>G	NP_056150.1:p.Ser1670Gly
XM_011538080.1:c.5008A>G	XP_011536382.1:p.Ser1670Gly
XM_011538081.1:c.5005A>G	XP_011536383.1:p.Ser1669Gly
XM_011538082.1:c.4978A>G	XP_011536384.1:p.Ser1660Gly
XM_011538080.2:c.5008A>G	XP_011536382.1:p.Ser1670Gly
XM_011538081.2:c.5005A>G	XP_011536383.1:p.Ser1669Gly
XM_011538082.2:c.4978A>G	XP_011536384.1:p.Ser1660Gly
XM_017019090.1:c.5005A>G	XP_016874579.1:p.Ser1669Gly
NM_015335.5:c.5008A>G MANE Select	NP_056150.1:p.Ser1670Gly