Canonical Allele Identifier: CA386888859

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1172667
• ClinVar RCV Id: RCV001526652
• dbSNP Id: rs2137307992
• MyVariant Identifiers: chr12:g.116429605G>A (hg19) ; chr12:g.115991800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991800G>A , CM000674.2:g.115991800G>A	GRCh38
NC_000012.11:g.116429605G>A , CM000674.1:g.116429605G>A	GRCh37
NC_000012.10:g.114913988G>A	NCBI36
NG_023366.1:g.290387C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3154C>T MANE Select	ENSP00000281928.3:p.Arg1052Ter
ENST00000548743.2:c.3124C>T	ENSP00000448553.2:p.Arg1042Ter
ENST00000549786.2:c.2582C>T
ENST00000648173.1:n.1949C>T
ENST00000648379.1:n.1522C>T
ENST00000648737.1:n.2918C>T
ENST00000648916.1:n.1165C>T
ENST00000649607.1:c.1338C>T
ENST00000650226.1:c.3154C>T	ENSP00000496981.1:p.Arg1052Ter
ENST00000281928.7:c.3154C>T	ENSP00000281928.3:p.Arg1052Ter
NM_015335.4:c.3154C>T	NP_056150.1:p.Arg1052Ter
XM_011538080.1:c.3154C>T	XP_011536382.1:p.Arg1052Ter
XM_011538081.1:c.3151C>T	XP_011536383.1:p.Arg1051Ter
XM_011538082.1:c.3124C>T	XP_011536384.1:p.Arg1042Ter
XM_011538080.2:c.3154C>T	XP_011536382.1:p.Arg1052Ter
XM_011538081.2:c.3151C>T	XP_011536383.1:p.Arg1051Ter
XM_011538082.2:c.3124C>T	XP_011536384.1:p.Arg1042Ter
XM_017019090.1:c.3151C>T	XP_016874579.1:p.Arg1051Ter
NM_015335.5:c.3154C>T MANE Select	NP_056150.1:p.Arg1052Ter