Canonical Allele Identifier: CA6810558

Gene: MED13L

Linked Data

• dbSNP Id: rs770622884
• ExAC: 12:116413273 C / T
• gnomAD v2: 12-116413273-C-T
• gnomAD v3: 12-115975468-C-T
• gnomAD v4: 12-115975468-C-T
• MyVariant Identifiers: chr12:g.116413273C>T (hg19) ; chr12:g.115975468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975468C>T , CM000674.2:g.115975468C>T	GRCh38
NC_000012.11:g.116413273C>T , CM000674.1:g.116413273C>T	GRCh37
NC_000012.10:g.114897656C>T	NCBI36
NG_023366.1:g.306719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+47G>A MANE Select	ENSP00000281928.3:n.5588+47G>A
ENST00000548694.2:n.424G>A
ENST00000648379.1:n.3956+47G>A
ENST00000648737.1:n.5352+47G>A
ENST00000648825.1:n.3773+47G>A
ENST00000648916.1:n.3599+47G>A
ENST00000649607.1:c.3772+47G>A
ENST00000649775.1:c.2077+47G>A
ENST00000650226.1:c.5588+47G>A	ENSP00000496981.1:n.5588+47G>A
ENST00000281928.7:c.5588+47G>A	ENSP00000281928.3:n.5588+47G>A
ENST00000548694.1:n.424G>A
ENST00000552447.1:c.165+47G>A
NM_015335.4:c.5588+47G>A	NP_056150.1:n.5588+47G>A
XM_011538080.1:c.5588+47G>A	XP_011536382.1:n.5588+47G>A
XM_011538081.1:c.5585+47G>A	XP_011536383.1:n.5585+47G>A
XM_011538082.1:c.5558+47G>A	XP_011536384.1:n.5558+47G>A
XM_011538080.2:c.5588+47G>A	XP_011536382.1:n.5588+47G>A
XM_011538081.2:c.5585+47G>A	XP_011536383.1:n.5585+47G>A
XM_011538082.2:c.5558+47G>A	XP_011536384.1:n.5558+47G>A
XM_017019090.1:c.5585+47G>A	XP_016874579.1:n.5585+47G>A
NM_015335.5:c.5588+47G>A MANE Select	NP_056150.1:n.5588+47G>A