Canonical Allele Identifier: CA6810975

Gene: MED13L

Linked Data

• ClinVar Variation Id: 241042
• ClinVar RCV Id: RCV000238804 ; RCV000418348 ; RCV001087088 ; RCV002487081 ; RCV004532946
• dbSNP Id: rs147863200
• ExAC: 12:116429247 T / C
• gnomAD v2: 12-116429247-T-C
• gnomAD v3: 12-115991442-T-C
• gnomAD v4: 12-115991442-T-C
• MyVariant Identifiers: chr12:g.116429247T>C (hg19) ; chr12:g.115991442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991442T>C , CM000674.2:g.115991442T>C	GRCh38
NC_000012.11:g.116429247T>C , CM000674.1:g.116429247T>C	GRCh37
NC_000012.10:g.114913630T>C	NCBI36
NG_023366.1:g.290745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3512A>G MANE Select	ENSP00000281928.3:p.Lys1171Arg
ENST00000549786.2:c.2940A>G
ENST00000648379.1:n.1880A>G
ENST00000648737.1:n.3276A>G
ENST00000648825.1:n.252A>G
ENST00000648916.1:n.1523A>G
ENST00000649607.1:c.1696A>G
ENST00000649775.1:c.9A>G
ENST00000650226.1:c.3512A>G	ENSP00000496981.1:p.Lys1171Arg
ENST00000281928.7:c.3512A>G	ENSP00000281928.3:p.Lys1171Arg
NM_015335.4:c.3512A>G	NP_056150.1:p.Lys1171Arg
XM_011538080.1:c.3512A>G	XP_011536382.1:p.Lys1171Arg
XM_011538081.1:c.3509A>G	XP_011536383.1:p.Lys1170Arg
XM_011538082.1:c.3482A>G	XP_011536384.1:p.Lys1161Arg
XM_011538080.2:c.3512A>G	XP_011536382.1:p.Lys1171Arg
XM_011538081.2:c.3509A>G	XP_011536383.1:p.Lys1170Arg
XM_011538082.2:c.3482A>G	XP_011536384.1:p.Lys1161Arg
XM_017019090.1:c.3509A>G	XP_016874579.1:p.Lys1170Arg
NM_015335.5:c.3512A>G MANE Select	NP_056150.1:p.Lys1171Arg