Canonical Allele Identifier: CA6810468

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2068901
• ClinVar RCV Id: RCV002954413
• dbSNP Id: rs138580123
• ExAC: 12:116408520 T / C
• gnomAD v2: 12-116408520-T-C
• gnomAD v4: 12-115970715-T-C
• MyVariant Identifiers: chr12:g.116408520T>C (hg19) ; chr12:g.115970715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970715T>C , CM000674.2:g.115970715T>C	GRCh38
NC_000012.11:g.116408520T>C , CM000674.1:g.116408520T>C	GRCh37
NC_000012.10:g.114892903T>C	NCBI36
NG_023366.1:g.311472A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5946A>G MANE Select	ENSP00000281928.3:p.Ser1982=
ENST00000548784.2:n.2160A>G
ENST00000648379.1:n.4314A>G
ENST00000648737.1:n.5710A>G
ENST00000648825.1:n.4131A>G
ENST00000648916.1:n.3957A>G
ENST00000649607.1:c.4130A>G
ENST00000649775.1:c.2435A>G
ENST00000650226.1:c.5982A>G	ENSP00000496981.1:p.Ser1994=
ENST00000281928.7:c.5946A>G	ENSP00000281928.3:p.Ser1982=
ENST00000548784.1:n.444A>G
ENST00000552447.1:c.559A>G
NM_015335.4:c.5946A>G	NP_056150.1:p.Ser1982=
XM_011538080.1:c.5982A>G	XP_011536382.1:p.Ser1994=
XM_011538081.1:c.5979A>G	XP_011536383.1:p.Ser1993=
XM_011538082.1:c.5952A>G	XP_011536384.1:p.Ser1984=
XM_011538080.2:c.5982A>G	XP_011536382.1:p.Ser1994=
XM_011538081.2:c.5979A>G	XP_011536383.1:p.Ser1993=
XM_011538082.2:c.5952A>G	XP_011536384.1:p.Ser1984=
XM_017019090.1:c.5943A>G	XP_016874579.1:p.Ser1981=
NM_015335.5:c.5946A>G MANE Select	NP_056150.1:p.Ser1982=