Canonical Allele Identifier: CA386927549

Gene: MED13L

Linked Data

• gnomAD v4: 12-116237623-T-C
• MyVariant Identifiers: chr12:g.116675428T>C (hg19) ; chr12:g.116237623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237623T>C , CM000674.2:g.116237623T>C	GRCh38
NC_000012.11:g.116675428T>C , CM000674.1:g.116675428T>C	GRCh37
NC_000012.10:g.115159811T>C	NCBI36
NG_023366.1:g.44564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.155A>G MANE Select	ENSP00000281928.3:p.Gln52Arg
ENST00000548743.2:c.125A>G	ENSP00000448553.2:p.Gln42Arg
ENST00000551197.2:c.105A>G
ENST00000647567.1:c.65A>G	ENSP00000497136.1:p.Gln22Arg
ENST00000650226.1:c.155A>G	ENSP00000496981.1:p.Gln52Arg
ENST00000650375.1:n.317A>G
ENST00000281928.7:c.155A>G	ENSP00000281928.3:p.Gln52Arg
ENST00000548743.1:c.125A>G	ENSP00000448553.1:p.Gln42Arg
ENST00000551197.1:n.105A>G
NM_015335.4:c.155A>G	NP_056150.1:p.Gln52Arg
XM_011538080.1:c.155A>G	XP_011536382.1:p.Gln52Arg
XM_011538081.1:c.155A>G	XP_011536383.1:p.Gln52Arg
XM_011538082.1:c.125A>G	XP_011536384.1:p.Gln42Arg
XM_011538080.2:c.155A>G	XP_011536382.1:p.Gln52Arg
XM_011538081.2:c.155A>G	XP_011536383.1:p.Gln52Arg
XM_011538082.2:c.125A>G	XP_011536384.1:p.Gln42Arg
XM_017019090.1:c.155A>G	XP_016874579.1:p.Gln52Arg
NM_015335.5:c.155A>G MANE Select	NP_056150.1:p.Gln52Arg