Canonical Allele Identifier: CA6810480

Gene: MED13L

Linked Data

• dbSNP Id: rs760590364
• ExAC: 12:116408616 C / A
• gnomAD v2: 12-116408616-C-A
• gnomAD v4: 12-115970811-C-A
• MyVariant Identifiers: chr12:g.116408616C>A (hg19) ; chr12:g.115970811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970811C>A , CM000674.2:g.115970811C>A	GRCh38
NC_000012.11:g.116408616C>A , CM000674.1:g.116408616C>A	GRCh37
NC_000012.10:g.114892999C>A	NCBI36
NG_023366.1:g.311376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5891-41G>T MANE Select	ENSP00000281928.3:n.5891-41G>T
ENST00000548694.2:n.881-41G>T
ENST00000548784.2:n.2105-41G>T
ENST00000648379.1:n.4259-41G>T
ENST00000648737.1:n.5655-41G>T
ENST00000648825.1:n.4076-41G>T
ENST00000648916.1:n.3902-41G>T
ENST00000649607.1:c.4075-41G>T
ENST00000649775.1:c.2380-41G>T
ENST00000650226.1:c.5927-41G>T	ENSP00000496981.1:n.5927-41G>T
ENST00000281928.7:c.5891-41G>T	ENSP00000281928.3:n.5891-41G>T
ENST00000548784.1:n.389-41G>T
ENST00000552447.1:c.504-41G>T
NM_015335.4:c.5891-41G>T	NP_056150.1:n.5891-41G>T
XM_011538080.1:c.5927-41G>T	XP_011536382.1:n.5927-41G>T
XM_011538081.1:c.5924-41G>T	XP_011536383.1:n.5924-41G>T
XM_011538082.1:c.5897-41G>T	XP_011536384.1:n.5897-41G>T
XM_011538080.2:c.5927-41G>T	XP_011536382.1:n.5927-41G>T
XM_011538081.2:c.5924-41G>T	XP_011536383.1:n.5924-41G>T
XM_011538082.2:c.5897-41G>T	XP_011536384.1:n.5897-41G>T
XM_017019090.1:c.5888-41G>T	XP_016874579.1:n.5888-41G>T
NM_015335.5:c.5891-41G>T MANE Select	NP_056150.1:n.5891-41G>T