Canonical Allele Identifier: CA952183626

Gene: MED13L

Linked Data

• dbSNP Id: rs1876532602
• gnomAD v3: 12-115970842-C-G
• gnomAD v4: 12-115970842-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970842C>G , CM000674.2:g.115970842C>G	GRCh38
NC_000012.11:g.116408647C>G , CM000674.1:g.116408647C>G	GRCh37
NC_000012.10:g.114893030C>G	NCBI36
NG_023366.1:g.311345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-72G>C MANE Select	ENSP00000281928.3:n.5891-72G>C
ENST00000548694.2:n.881-72G>C
ENST00000548784.2:n.2105-72G>C
ENST00000648379.1:n.4259-72G>C
ENST00000648737.1:n.5655-72G>C
ENST00000648825.1:n.4076-72G>C
ENST00000648916.1:n.3902-72G>C
ENST00000649607.1:c.4075-72G>C
ENST00000649775.1:c.2380-72G>C
ENST00000650226.1:c.5927-72G>C	ENSP00000496981.1:n.5927-72G>C
ENST00000281928.7:c.5891-72G>C	ENSP00000281928.3:n.5891-72G>C
ENST00000548784.1:n.389-72G>C
ENST00000552447.1:c.504-72G>C
NM_015335.4:c.5891-72G>C	NP_056150.1:n.5891-72G>C
XM_011538080.1:c.5927-72G>C	XP_011536382.1:n.5927-72G>C
XM_011538081.1:c.5924-72G>C	XP_011536383.1:n.5924-72G>C
XM_011538082.1:c.5897-72G>C	XP_011536384.1:n.5897-72G>C
XM_011538080.2:c.5927-72G>C	XP_011536382.1:n.5927-72G>C
XM_011538081.2:c.5924-72G>C	XP_011536383.1:n.5924-72G>C
XM_011538082.2:c.5897-72G>C	XP_011536384.1:n.5897-72G>C
XM_017019090.1:c.5888-72G>C	XP_016874579.1:n.5888-72G>C
NM_015335.5:c.5891-72G>C MANE Select	NP_056150.1:n.5891-72G>C