Canonical Allele Identifier: CA482008484

Gene: MED13L

Linked Data

• dbSNP Id: rs1870212479
• gnomAD v4: 12-116237622-T-C
• MyVariant Identifiers: chr12:g.116675427T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116237622T>C , CM000674.2:g.116237622T>C	GRCh38
NC_000012.11:g.116675427T>C , CM000674.1:g.116675427T>C	GRCh37
NC_000012.10:g.115159810T>C	NCBI36
NG_023366.1:g.44565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.156A>G MANE Select	ENSP00000281928.3:p.Gln52=
ENST00000548743.2:c.126A>G	ENSP00000448553.2:p.Gln42=
ENST00000551197.2:c.106A>G
ENST00000647567.1:c.66A>G	ENSP00000497136.1:p.Gln22=
ENST00000650226.1:c.156A>G	ENSP00000496981.1:p.Gln52=
ENST00000650375.1:n.318A>G
ENST00000281928.7:c.156A>G	ENSP00000281928.3:p.Gln52=
ENST00000548743.1:c.126A>G	ENSP00000448553.1:p.Gln42=
ENST00000551197.1:n.106A>G
NM_015335.4:c.156A>G	NP_056150.1:p.Gln52=
XM_011538080.1:c.156A>G	XP_011536382.1:p.Gln52=
XM_011538081.1:c.156A>G	XP_011536383.1:p.Gln52=
XM_011538082.1:c.126A>G	XP_011536384.1:p.Gln42=
XM_011538080.2:c.156A>G	XP_011536382.1:p.Gln52=
XM_011538081.2:c.156A>G	XP_011536383.1:p.Gln52=
XM_011538082.2:c.126A>G	XP_011536384.1:p.Gln42=
XM_017019090.1:c.156A>G	XP_016874579.1:p.Gln52=
NM_015335.5:c.156A>G MANE Select	NP_056150.1:p.Gln52=