Canonical Allele Identifier: CA386882722

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116421061C>G (hg19) ; chr12:g.115983256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115983256C>G , CM000674.2:g.115983256C>G	GRCh38
NC_000012.11:g.116421061C>G , CM000674.1:g.116421061C>G	GRCh37
NC_000012.10:g.114905444C>G	NCBI36
NG_023366.1:g.298931G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.4816G>C MANE Select	ENSP00000281928.3:p.Gly1606Arg
ENST00000549786.2:c.4244G>C
ENST00000648379.1:n.3184G>C
ENST00000648737.1:n.4580G>C
ENST00000648825.1:n.1556G>C
ENST00000648916.1:n.2827G>C
ENST00000649146.1:n.1546G>C
ENST00000649607.1:c.3000G>C
ENST00000649775.1:c.1313G>C
ENST00000650226.1:c.4816G>C	ENSP00000496981.1:p.Gly1606Arg
ENST00000281928.7:c.4816G>C	ENSP00000281928.3:p.Gly1606Arg
ENST00000549786.1:c.180G>C
NM_015335.4:c.4816G>C	NP_056150.1:p.Gly1606Arg
XM_011538080.1:c.4816G>C	XP_011536382.1:p.Gly1606Arg
XM_011538081.1:c.4813G>C	XP_011536383.1:p.Gly1605Arg
XM_011538082.1:c.4786G>C	XP_011536384.1:p.Gly1596Arg
XM_011538080.2:c.4816G>C	XP_011536382.1:p.Gly1606Arg
XM_011538081.2:c.4813G>C	XP_011536383.1:p.Gly1605Arg
XM_011538082.2:c.4786G>C	XP_011536384.1:p.Gly1596Arg
XM_017019090.1:c.4813G>C	XP_016874579.1:p.Gly1605Arg
NM_015335.5:c.4816G>C MANE Select	NP_056150.1:p.Gly1606Arg