Canonical Allele Identifier: CA6811469

Gene: MED13L

Linked Data

• ClinVar Variation Id: 696823
• ClinVar RCV Id: RCV000863378 ; RCV004540173
• dbSNP Id: rs143469047
• ExAC: 12:116450684 T / C
• gnomAD v2: 12-116450684-T-C
• gnomAD v3: 12-116012879-T-C
• gnomAD v4: 12-116012879-T-C
• MyVariant Identifiers: chr12:g.116450684T>C (hg19) ; chr12:g.116012879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012879T>C , CM000674.2:g.116012879T>C	GRCh38
NC_000012.11:g.116450684T>C , CM000674.1:g.116450684T>C	GRCh37
NC_000012.10:g.114935067T>C	NCBI36
NG_023366.1:g.269308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1198A>G MANE Select	ENSP00000281928.3:p.Thr400Ala
ENST00000548743.2:c.1168A>G	ENSP00000448553.2:p.Thr390Ala
ENST00000549786.2:c.626A>G
ENST00000647567.1:c.1105A>G	ENSP00000497136.1:p.Thr369Ala
ENST00000648737.1:n.962A>G
ENST00000650226.1:c.1198A>G	ENSP00000496981.1:p.Thr400Ala
ENST00000281928.7:c.1198A>G	ENSP00000281928.3:p.Thr400Ala
NM_015335.4:c.1198A>G	NP_056150.1:p.Thr400Ala
XM_011538080.1:c.1198A>G	XP_011536382.1:p.Thr400Ala
XM_011538081.1:c.1198A>G	XP_011536383.1:p.Thr400Ala
XM_011538082.1:c.1168A>G	XP_011536384.1:p.Thr390Ala
XM_011538080.2:c.1198A>G	XP_011536382.1:p.Thr400Ala
XM_011538081.2:c.1198A>G	XP_011536383.1:p.Thr400Ala
XM_011538082.2:c.1168A>G	XP_011536384.1:p.Thr390Ala
XM_017019090.1:c.1198A>G	XP_016874579.1:p.Thr400Ala
NM_015335.5:c.1198A>G MANE Select	NP_056150.1:p.Thr400Ala