Canonical Allele Identifier: CA244150204

Gene: MED13L

Linked Data

• ClinVar Variation Id: 1303331
• ClinVar RCV Id: RCV001757886 ; RCV003120660
• dbSNP Id: rs977444793
• gnomAD v3: 12-115991799-C-T
• gnomAD v4: 12-115991799-C-T
• MyVariant Identifiers: chr12:g.116429604C>T (hg19) ; chr12:g.115991799C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991799C>T , CM000674.2:g.115991799C>T	GRCh38
NC_000012.11:g.116429604C>T , CM000674.1:g.116429604C>T	GRCh37
NC_000012.10:g.114913987C>T	NCBI36
NG_023366.1:g.290388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3155G>A MANE Select	ENSP00000281928.3:p.Arg1052Gln
ENST00000548743.2:c.3125G>A	ENSP00000448553.2:p.Arg1042Gln
ENST00000549786.2:c.2583G>A
ENST00000648173.1:n.1950G>A
ENST00000648379.1:n.1523G>A
ENST00000648737.1:n.2919G>A
ENST00000648916.1:n.1166G>A
ENST00000649607.1:c.1339G>A
ENST00000650226.1:c.3155G>A	ENSP00000496981.1:p.Arg1052Gln
ENST00000281928.7:c.3155G>A	ENSP00000281928.3:p.Arg1052Gln
NM_015335.4:c.3155G>A	NP_056150.1:p.Arg1052Gln
XM_011538080.1:c.3155G>A	XP_011536382.1:p.Arg1052Gln
XM_011538081.1:c.3152G>A	XP_011536383.1:p.Arg1051Gln
XM_011538082.1:c.3125G>A	XP_011536384.1:p.Arg1042Gln
XM_011538080.2:c.3155G>A	XP_011536382.1:p.Arg1052Gln
XM_011538081.2:c.3152G>A	XP_011536383.1:p.Arg1051Gln
XM_011538082.2:c.3125G>A	XP_011536384.1:p.Arg1042Gln
XM_017019090.1:c.3152G>A	XP_016874579.1:p.Arg1051Gln
NM_015335.5:c.3155G>A MANE Select	NP_056150.1:p.Arg1052Gln