Canonical Allele Identifier: CA481943240

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970739-T-G
• MyVariant Identifiers: chr12:g.116408544T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970739T>G , CM000674.2:g.115970739T>G	GRCh38
NC_000012.11:g.116408544T>G , CM000674.1:g.116408544T>G	GRCh37
NC_000012.10:g.114892927T>G	NCBI36
NG_023366.1:g.311448A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5922A>C MANE Select	ENSP00000281928.3:p.Arg1974=
ENST00000548784.2:n.2136A>C
ENST00000648379.1:n.4290A>C
ENST00000648737.1:n.5686A>C
ENST00000648825.1:n.4107A>C
ENST00000648916.1:n.3933A>C
ENST00000649607.1:c.4106A>C
ENST00000649775.1:c.2411A>C
ENST00000650226.1:c.5958A>C	ENSP00000496981.1:p.Arg1986=
ENST00000281928.7:c.5922A>C	ENSP00000281928.3:p.Arg1974=
ENST00000548784.1:n.420A>C
ENST00000552447.1:c.535A>C
NM_015335.4:c.5922A>C	NP_056150.1:p.Arg1974=
XM_011538080.1:c.5958A>C	XP_011536382.1:p.Arg1986=
XM_011538081.1:c.5955A>C	XP_011536383.1:p.Arg1985=
XM_011538082.1:c.5928A>C	XP_011536384.1:p.Arg1976=
XM_011538080.2:c.5958A>C	XP_011536382.1:p.Arg1986=
XM_011538081.2:c.5955A>C	XP_011536383.1:p.Arg1985=
XM_011538082.2:c.5928A>C	XP_011536384.1:p.Arg1976=
XM_017019090.1:c.5919A>C	XP_016874579.1:p.Arg1973=
NM_015335.5:c.5922A>C MANE Select	NP_056150.1:p.Arg1974=