Canonical Allele Identifier: CA244136415

Gene: MED13L

Linked Data

• dbSNP Id: rs773492789
• gnomAD v4: 12-115975501-T-G
• MyVariant Identifiers: chr12:g.116413306T>G (hg19) ; chr12:g.115975501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975501T>G , CM000674.2:g.115975501T>G	GRCh38
NC_000012.11:g.116413306T>G , CM000674.1:g.116413306T>G	GRCh37
NC_000012.10:g.114897689T>G	NCBI36
NG_023366.1:g.306686A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5588+14A>C MANE Select	ENSP00000281928.3:n.5588+14A>C
ENST00000548694.2:n.391A>C
ENST00000648379.1:n.3956+14A>C
ENST00000648737.1:n.5352+14A>C
ENST00000648825.1:n.3773+14A>C
ENST00000648916.1:n.3599+14A>C
ENST00000649607.1:c.3772+14A>C
ENST00000649775.1:c.2077+14A>C
ENST00000650226.1:c.5588+14A>C	ENSP00000496981.1:n.5588+14A>C
ENST00000281928.7:c.5588+14A>C	ENSP00000281928.3:n.5588+14A>C
ENST00000548694.1:n.391A>C
ENST00000552447.1:c.165+14A>C
NM_015335.4:c.5588+14A>C	NP_056150.1:n.5588+14A>C
XM_011538080.1:c.5588+14A>C	XP_011536382.1:n.5588+14A>C
XM_011538081.1:c.5585+14A>C	XP_011536383.1:n.5585+14A>C
XM_011538082.1:c.5558+14A>C	XP_011536384.1:n.5558+14A>C
XM_011538080.2:c.5588+14A>C	XP_011536382.1:n.5588+14A>C
XM_011538081.2:c.5585+14A>C	XP_011536383.1:n.5585+14A>C
XM_011538082.2:c.5558+14A>C	XP_011536384.1:n.5558+14A>C
XM_017019090.1:c.5585+14A>C	XP_016874579.1:n.5585+14A>C
NM_015335.5:c.5588+14A>C MANE Select	NP_056150.1:n.5588+14A>C