Canonical Allele Identifier: CA386872204

Gene: MED13L

Linked Data

• gnomAD v4: 12-116022498-C-G
• MyVariant Identifiers: chr12:g.116460303C>G (hg19) ; chr12:g.116022498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022498C>G , CM000674.2:g.116022498C>G	GRCh38
NC_000012.11:g.116460303C>G , CM000674.1:g.116460303C>G	GRCh37
NC_000012.10:g.114944686C>G	NCBI36
NG_023366.1:g.259689G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.583G>C MANE Select	ENSP00000281928.3:p.Glu195Gln
ENST00000548743.2:c.553G>C	ENSP00000448553.2:p.Glu185Gln
ENST00000549786.2:c.11G>C
ENST00000647567.1:c.493G>C	ENSP00000497136.1:p.Glu165Gln
ENST00000648737.1:n.347G>C
ENST00000650226.1:c.583G>C	ENSP00000496981.1:p.Glu195Gln
ENST00000281928.7:c.583G>C	ENSP00000281928.3:p.Glu195Gln
NM_015335.4:c.583G>C	NP_056150.1:p.Glu195Gln
XM_011538080.1:c.583G>C	XP_011536382.1:p.Glu195Gln
XM_011538081.1:c.583G>C	XP_011536383.1:p.Glu195Gln
XM_011538082.1:c.553G>C	XP_011536384.1:p.Glu185Gln
XM_011538080.2:c.583G>C	XP_011536382.1:p.Glu195Gln
XM_011538081.2:c.583G>C	XP_011536383.1:p.Glu195Gln
XM_011538082.2:c.553G>C	XP_011536384.1:p.Glu185Gln
XM_017019090.1:c.583G>C	XP_016874579.1:p.Glu195Gln
NM_015335.5:c.583G>C MANE Select	NP_056150.1:p.Glu195Gln