Canonical Allele Identifier: CA386887746

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429323C>A (hg19) ; chr12:g.115991518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991518C>A , CM000674.2:g.115991518C>A	GRCh38
NC_000012.11:g.116429323C>A , CM000674.1:g.116429323C>A	GRCh37
NC_000012.10:g.114913706C>A	NCBI36
NG_023366.1:g.290669G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3436G>T MANE Select	ENSP00000281928.3:p.Gly1146Trp
ENST00000549786.2:c.2864G>T
ENST00000648379.1:n.1804G>T
ENST00000648737.1:n.3200G>T
ENST00000648825.1:n.176G>T
ENST00000648916.1:n.1447G>T
ENST00000649607.1:c.1620G>T
ENST00000650226.1:c.3436G>T	ENSP00000496981.1:p.Gly1146Trp
ENST00000281928.7:c.3436G>T	ENSP00000281928.3:p.Gly1146Trp
NM_015335.4:c.3436G>T	NP_056150.1:p.Gly1146Trp
XM_011538080.1:c.3436G>T	XP_011536382.1:p.Gly1146Trp
XM_011538081.1:c.3433G>T	XP_011536383.1:p.Gly1145Trp
XM_011538082.1:c.3406G>T	XP_011536384.1:p.Gly1136Trp
XM_011538080.2:c.3436G>T	XP_011536382.1:p.Gly1146Trp
XM_011538081.2:c.3433G>T	XP_011536383.1:p.Gly1145Trp
XM_011538082.2:c.3406G>T	XP_011536384.1:p.Gly1136Trp
XM_017019090.1:c.3433G>T	XP_016874579.1:p.Gly1145Trp
NM_015335.5:c.3436G>T MANE Select	NP_056150.1:p.Gly1146Trp