Canonical Allele Identifier: CA481944872

Gene: MED13L

Linked Data

• gnomAD v4: 12-115975292-A-C
• MyVariant Identifiers: chr12:g.116413097A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975292A>C , CM000674.2:g.115975292A>C	GRCh38
NC_000012.11:g.116413097A>C , CM000674.1:g.116413097A>C	GRCh37
NC_000012.10:g.114897480A>C	NCBI36
NG_023366.1:g.306895T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5610T>G MANE Select	ENSP00000281928.3:p.Ser1870=
ENST00000548694.2:n.600T>G
ENST00000648379.1:n.3978T>G
ENST00000648737.1:n.5374T>G
ENST00000648825.1:n.3795T>G
ENST00000648916.1:n.3621T>G
ENST00000649607.1:c.3794T>G
ENST00000649775.1:c.2099T>G
ENST00000650226.1:c.5646T>G	ENSP00000496981.1:p.Ser1882=
ENST00000281928.7:c.5610T>G	ENSP00000281928.3:p.Ser1870=
ENST00000548694.1:n.600T>G
ENST00000552447.1:c.223T>G
NM_015335.4:c.5610T>G	NP_056150.1:p.Ser1870=
XM_011538080.1:c.5646T>G	XP_011536382.1:p.Ser1882=
XM_011538081.1:c.5643T>G	XP_011536383.1:p.Ser1881=
XM_011538082.1:c.5616T>G	XP_011536384.1:p.Ser1872=
XM_011538080.2:c.5646T>G	XP_011536382.1:p.Ser1882=
XM_011538081.2:c.5643T>G	XP_011536383.1:p.Ser1881=
XM_011538082.2:c.5616T>G	XP_011536384.1:p.Ser1872=
XM_017019090.1:c.5607T>G	XP_016874579.1:p.Ser1869=
NM_015335.5:c.5610T>G MANE Select	NP_056150.1:p.Ser1870=