Canonical Allele Identifier: CA482137395

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429321C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991516C>G , CM000674.2:g.115991516C>G	GRCh38
NC_000012.11:g.116429321C>G , CM000674.1:g.116429321C>G	GRCh37
NC_000012.10:g.114913704C>G	NCBI36
NG_023366.1:g.290671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3438G>C MANE Select	ENSP00000281928.3:p.Gly1146=
ENST00000549786.2:c.2866G>C
ENST00000648379.1:n.1806G>C
ENST00000648737.1:n.3202G>C
ENST00000648825.1:n.178G>C
ENST00000648916.1:n.1449G>C
ENST00000649607.1:c.1622G>C
ENST00000650226.1:c.3438G>C	ENSP00000496981.1:p.Gly1146=
ENST00000281928.7:c.3438G>C	ENSP00000281928.3:p.Gly1146=
NM_015335.4:c.3438G>C	NP_056150.1:p.Gly1146=
XM_011538080.1:c.3438G>C	XP_011536382.1:p.Gly1146=
XM_011538081.1:c.3435G>C	XP_011536383.1:p.Gly1145=
XM_011538082.1:c.3408G>C	XP_011536384.1:p.Gly1136=
XM_011538080.2:c.3438G>C	XP_011536382.1:p.Gly1146=
XM_011538081.2:c.3435G>C	XP_011536383.1:p.Gly1145=
XM_011538082.2:c.3408G>C	XP_011536384.1:p.Gly1136=
XM_017019090.1:c.3435G>C	XP_016874579.1:p.Gly1145=
NM_015335.5:c.3438G>C MANE Select	NP_056150.1:p.Gly1146=