Canonical Allele Identifier: CA6811118

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2051757
• ClinVar RCV Id: RCV002927499
• dbSNP Id: rs777444843
• ExAC: 12:116434957 T / C
• gnomAD v2: 12-116434957-T-C
• gnomAD v3: 12-115997152-T-C
• gnomAD v4: 12-115997152-T-C
• MyVariant Identifiers: chr12:g.116434957T>C (hg19) ; chr12:g.115997152T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997152T>C , CM000674.2:g.115997152T>C	GRCh38
NC_000012.11:g.116434957T>C , CM000674.1:g.116434957T>C	GRCh37
NC_000012.10:g.114919340T>C	NCBI36
NG_023366.1:g.285035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2648A>G MANE Select	ENSP00000281928.3:p.Tyr883Cys
ENST00000548743.2:c.2618A>G	ENSP00000448553.2:p.Tyr873Cys
ENST00000549786.2:c.2076A>G
ENST00000647927.1:n.3021A>G
ENST00000648173.1:n.1443A>G
ENST00000648379.1:n.1016A>G
ENST00000648737.1:n.2412A>G
ENST00000648916.1:n.659A>G
ENST00000649607.1:c.832A>G
ENST00000650226.1:c.2648A>G	ENSP00000496981.1:p.Tyr883Cys
ENST00000281928.7:c.2648A>G	ENSP00000281928.3:p.Tyr883Cys
NM_015335.4:c.2648A>G	NP_056150.1:p.Tyr883Cys
XM_011538080.1:c.2648A>G	XP_011536382.1:p.Tyr883Cys
XM_011538081.1:c.2645A>G	XP_011536383.1:p.Tyr882Cys
XM_011538082.1:c.2618A>G	XP_011536384.1:p.Tyr873Cys
XM_011538080.2:c.2648A>G	XP_011536382.1:p.Tyr883Cys
XM_011538081.2:c.2645A>G	XP_011536383.1:p.Tyr882Cys
XM_011538082.2:c.2618A>G	XP_011536384.1:p.Tyr873Cys
XM_017019090.1:c.2645A>G	XP_016874579.1:p.Tyr882Cys
NM_015335.5:c.2648A>G MANE Select	NP_056150.1:p.Tyr883Cys