Canonical Allele Identifier: CA386898175

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116450606A>G (hg19) ; chr12:g.116012801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012801A>G , CM000674.2:g.116012801A>G	GRCh38
NC_000012.11:g.116450606A>G , CM000674.1:g.116450606A>G	GRCh37
NC_000012.10:g.114934989A>G	NCBI36
NG_023366.1:g.269386T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.1276T>C MANE Select	ENSP00000281928.3:p.Ser426Pro
ENST00000548743.2:c.1246T>C	ENSP00000448553.2:p.Ser416Pro
ENST00000549786.2:c.704T>C
ENST00000647567.1:c.1183T>C	ENSP00000497136.1:p.Ser395Pro
ENST00000648737.1:n.1040T>C
ENST00000650226.1:c.1276T>C	ENSP00000496981.1:p.Ser426Pro
ENST00000281928.7:c.1276T>C	ENSP00000281928.3:p.Ser426Pro
NM_015335.4:c.1276T>C	NP_056150.1:p.Ser426Pro
XM_011538080.1:c.1276T>C	XP_011536382.1:p.Ser426Pro
XM_011538081.1:c.1276T>C	XP_011536383.1:p.Ser426Pro
XM_011538082.1:c.1246T>C	XP_011536384.1:p.Ser416Pro
XM_011538080.2:c.1276T>C	XP_011536382.1:p.Ser426Pro
XM_011538081.2:c.1276T>C	XP_011536383.1:p.Ser426Pro
XM_011538082.2:c.1246T>C	XP_011536384.1:p.Ser416Pro
XM_017019090.1:c.1276T>C	XP_016874579.1:p.Ser426Pro
NM_015335.5:c.1276T>C MANE Select	NP_056150.1:p.Ser426Pro