Canonical Allele Identifier: CA386878153

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413003C>A (hg19) ; chr12:g.115975198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975198C>A , CM000674.2:g.115975198C>A	GRCh38
NC_000012.11:g.116413003C>A , CM000674.1:g.116413003C>A	GRCh37
NC_000012.10:g.114897386C>A	NCBI36
NG_023366.1:g.306989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5704G>T MANE Select	ENSP00000281928.3:p.Gly1902Trp
ENST00000548694.2:n.694G>T
ENST00000648379.1:n.4072G>T
ENST00000648737.1:n.5468G>T
ENST00000648825.1:n.3889G>T
ENST00000648916.1:n.3715G>T
ENST00000649607.1:c.3888G>T
ENST00000649775.1:c.2193G>T
ENST00000650226.1:c.5740G>T	ENSP00000496981.1:p.Gly1914Trp
ENST00000281928.7:c.5704G>T	ENSP00000281928.3:p.Gly1902Trp
ENST00000548694.1:n.694G>T
ENST00000552447.1:c.317G>T
NM_015335.4:c.5704G>T	NP_056150.1:p.Gly1902Trp
XM_011538080.1:c.5740G>T	XP_011536382.1:p.Gly1914Trp
XM_011538081.1:c.5737G>T	XP_011536383.1:p.Gly1913Trp
XM_011538082.1:c.5710G>T	XP_011536384.1:p.Gly1904Trp
XM_011538080.2:c.5740G>T	XP_011536382.1:p.Gly1914Trp
XM_011538081.2:c.5737G>T	XP_011536383.1:p.Gly1913Trp
XM_011538082.2:c.5710G>T	XP_011536384.1:p.Gly1904Trp
XM_017019090.1:c.5701G>T	XP_016874579.1:p.Gly1901Trp
NM_015335.5:c.5704G>T MANE Select	NP_056150.1:p.Gly1902Trp