Canonical Allele Identifier: CA386876568

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970738-T-G
• MyVariant Identifiers: chr12:g.116408543T>G (hg19) ; chr12:g.115970738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970738T>G , CM000674.2:g.115970738T>G	GRCh38
NC_000012.11:g.116408543T>G , CM000674.1:g.116408543T>G	GRCh37
NC_000012.10:g.114892926T>G	NCBI36
NG_023366.1:g.311449A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5923A>C MANE Select	ENSP00000281928.3:p.Ser1975Arg
ENST00000548784.2:n.2137A>C
ENST00000648379.1:n.4291A>C
ENST00000648737.1:n.5687A>C
ENST00000648825.1:n.4108A>C
ENST00000648916.1:n.3934A>C
ENST00000649607.1:c.4107A>C
ENST00000649775.1:c.2412A>C
ENST00000650226.1:c.5959A>C	ENSP00000496981.1:p.Ser1987Arg
ENST00000281928.7:c.5923A>C	ENSP00000281928.3:p.Ser1975Arg
ENST00000548784.1:n.421A>C
ENST00000552447.1:c.536A>C
NM_015335.4:c.5923A>C	NP_056150.1:p.Ser1975Arg
XM_011538080.1:c.5959A>C	XP_011536382.1:p.Ser1987Arg
XM_011538081.1:c.5956A>C	XP_011536383.1:p.Ser1986Arg
XM_011538082.1:c.5929A>C	XP_011536384.1:p.Ser1977Arg
XM_011538080.2:c.5959A>C	XP_011536382.1:p.Ser1987Arg
XM_011538081.2:c.5956A>C	XP_011536383.1:p.Ser1986Arg
XM_011538082.2:c.5929A>C	XP_011536384.1:p.Ser1977Arg
XM_017019090.1:c.5920A>C	XP_016874579.1:p.Ser1974Arg
NM_015335.5:c.5923A>C MANE Select	NP_056150.1:p.Ser1975Arg