Canonical Allele Identifier: CA386888457

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2905171
• ClinVar RCV Id: RCV003603726
• gnomAD v4: 12-115991689-T-C
• MyVariant Identifiers: chr12:g.116429494T>C (hg19) ; chr12:g.115991689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991689T>C , CM000674.2:g.115991689T>C	GRCh38
NC_000012.11:g.116429494T>C , CM000674.1:g.116429494T>C	GRCh37
NC_000012.10:g.114913877T>C	NCBI36
NG_023366.1:g.290498A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3265A>G MANE Select	ENSP00000281928.3:p.Thr1089Ala
ENST00000548743.2:c.3235A>G	ENSP00000448553.2:p.Thr1079Ala
ENST00000549786.2:c.2693A>G
ENST00000648379.1:n.1633A>G
ENST00000648737.1:n.3029A>G
ENST00000648825.1:n.5A>G
ENST00000648916.1:n.1276A>G
ENST00000649607.1:c.1449A>G
ENST00000650226.1:c.3265A>G	ENSP00000496981.1:p.Thr1089Ala
ENST00000281928.7:c.3265A>G	ENSP00000281928.3:p.Thr1089Ala
NM_015335.4:c.3265A>G	NP_056150.1:p.Thr1089Ala
XM_011538080.1:c.3265A>G	XP_011536382.1:p.Thr1089Ala
XM_011538081.1:c.3262A>G	XP_011536383.1:p.Thr1088Ala
XM_011538082.1:c.3235A>G	XP_011536384.1:p.Thr1079Ala
XM_011538080.2:c.3265A>G	XP_011536382.1:p.Thr1089Ala
XM_011538081.2:c.3262A>G	XP_011536383.1:p.Thr1088Ala
XM_011538082.2:c.3235A>G	XP_011536384.1:p.Thr1079Ala
XM_017019090.1:c.3262A>G	XP_016874579.1:p.Thr1088Ala
NM_015335.5:c.3265A>G MANE Select	NP_056150.1:p.Thr1089Ala