Canonical Allele Identifier: CA244133185

Gene: MED13L

Linked Data

• dbSNP Id: rs922150463
• gnomAD v4: 12-115970805-G-C
• MyVariant Identifiers: chr12:g.116408610G>C (hg19) ; chr12:g.115970805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970805G>C , CM000674.2:g.115970805G>C	GRCh38
NC_000012.11:g.116408610G>C , CM000674.1:g.116408610G>C	GRCh37
NC_000012.10:g.114892993G>C	NCBI36
NG_023366.1:g.311382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-35C>G MANE Select	ENSP00000281928.3:n.5891-35C>G
ENST00000548694.2:n.881-35C>G
ENST00000548784.2:n.2105-35C>G
ENST00000648379.1:n.4259-35C>G
ENST00000648737.1:n.5655-35C>G
ENST00000648825.1:n.4076-35C>G
ENST00000648916.1:n.3902-35C>G
ENST00000649607.1:c.4075-35C>G
ENST00000649775.1:c.2380-35C>G
ENST00000650226.1:c.5927-35C>G	ENSP00000496981.1:n.5927-35C>G
ENST00000281928.7:c.5891-35C>G	ENSP00000281928.3:n.5891-35C>G
ENST00000548784.1:n.389-35C>G
ENST00000552447.1:c.504-35C>G
NM_015335.4:c.5891-35C>G	NP_056150.1:n.5891-35C>G
XM_011538080.1:c.5927-35C>G	XP_011536382.1:n.5927-35C>G
XM_011538081.1:c.5924-35C>G	XP_011536383.1:n.5924-35C>G
XM_011538082.1:c.5897-35C>G	XP_011536384.1:n.5897-35C>G
XM_011538080.2:c.5927-35C>G	XP_011536382.1:n.5927-35C>G
XM_011538081.2:c.5924-35C>G	XP_011536383.1:n.5924-35C>G
XM_011538082.2:c.5897-35C>G	XP_011536384.1:n.5897-35C>G
XM_017019090.1:c.5888-35C>G	XP_016874579.1:n.5888-35C>G
NM_015335.5:c.5891-35C>G MANE Select	NP_056150.1:n.5891-35C>G