Canonical Allele Identifier: CA244154544

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2505783
• ClinVar RCV Id: RCV003236015
• dbSNP Id: rs947804085
• gnomAD v4: 12-115997024-G-T
• MyVariant Identifiers: chr12:g.116434829G>T (hg19) ; chr12:g.115997024G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997024G>T , CM000674.2:g.115997024G>T	GRCh38
NC_000012.11:g.116434829G>T , CM000674.1:g.116434829G>T	GRCh37
NC_000012.10:g.114919212G>T	NCBI36
NG_023366.1:g.285163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2776C>A MANE Select	ENSP00000281928.3:p.Pro926Thr
ENST00000548743.2:c.2746C>A	ENSP00000448553.2:p.Pro916Thr
ENST00000549786.2:c.2204C>A
ENST00000647927.1:n.3149C>A
ENST00000648173.1:n.1571C>A
ENST00000648379.1:n.1144C>A
ENST00000648737.1:n.2540C>A
ENST00000648916.1:n.787C>A
ENST00000649607.1:c.960C>A
ENST00000650226.1:c.2776C>A	ENSP00000496981.1:p.Pro926Thr
ENST00000281928.7:c.2776C>A	ENSP00000281928.3:p.Pro926Thr
NM_015335.4:c.2776C>A	NP_056150.1:p.Pro926Thr
XM_011538080.1:c.2776C>A	XP_011536382.1:p.Pro926Thr
XM_011538081.1:c.2773C>A	XP_011536383.1:p.Pro925Thr
XM_011538082.1:c.2746C>A	XP_011536384.1:p.Pro916Thr
XM_011538080.2:c.2776C>A	XP_011536382.1:p.Pro926Thr
XM_011538081.2:c.2773C>A	XP_011536383.1:p.Pro925Thr
XM_011538082.2:c.2746C>A	XP_011536384.1:p.Pro916Thr
XM_017019090.1:c.2773C>A	XP_016874579.1:p.Pro925Thr
NM_015335.5:c.2776C>A MANE Select	NP_056150.1:p.Pro926Thr