Canonical Allele Identifier: CA386876108

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408417C>A (hg19) ; chr12:g.115970612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970612C>A , CM000674.2:g.115970612C>A	GRCh38
NC_000012.11:g.116408417C>A , CM000674.1:g.116408417C>A	GRCh37
NC_000012.10:g.114892800C>A	NCBI36
NG_023366.1:g.311575G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6049G>T MANE Select	ENSP00000281928.3:p.Gly2017Trp
ENST00000548784.2:n.2263G>T
ENST00000648379.1:n.4417G>T
ENST00000648737.1:n.5813G>T
ENST00000648825.1:n.4234G>T
ENST00000648916.1:n.4060G>T
ENST00000649607.1:c.4233G>T
ENST00000649775.1:c.2538G>T
ENST00000650226.1:c.6085G>T	ENSP00000496981.1:p.Gly2029Trp
ENST00000281928.7:c.6049G>T	ENSP00000281928.3:p.Gly2017Trp
NM_015335.4:c.6049G>T	NP_056150.1:p.Gly2017Trp
XM_011538080.1:c.6085G>T	XP_011536382.1:p.Gly2029Trp
XM_011538081.1:c.6082G>T	XP_011536383.1:p.Gly2028Trp
XM_011538082.1:c.6055G>T	XP_011536384.1:p.Gly2019Trp
XM_011538080.2:c.6085G>T	XP_011536382.1:p.Gly2029Trp
XM_011538081.2:c.6082G>T	XP_011536383.1:p.Gly2028Trp
XM_011538082.2:c.6055G>T	XP_011536384.1:p.Gly2019Trp
XM_017019090.1:c.6046G>T	XP_016874579.1:p.Gly2016Trp
NM_015335.5:c.6049G>T MANE Select	NP_056150.1:p.Gly2017Trp