Canonical Allele Identifier: CA481944877

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116413100T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115975295T>G , CM000674.2:g.115975295T>G	GRCh38
NC_000012.11:g.116413100T>G , CM000674.1:g.116413100T>G	GRCh37
NC_000012.10:g.114897483T>G	NCBI36
NG_023366.1:g.306892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5607A>C MANE Select	ENSP00000281928.3:p.Val1869=
ENST00000548694.2:n.597A>C
ENST00000648379.1:n.3975A>C
ENST00000648737.1:n.5371A>C
ENST00000648825.1:n.3792A>C
ENST00000648916.1:n.3618A>C
ENST00000649607.1:c.3791A>C
ENST00000649775.1:c.2096A>C
ENST00000650226.1:c.5643A>C	ENSP00000496981.1:p.Val1881=
ENST00000281928.7:c.5607A>C	ENSP00000281928.3:p.Val1869=
ENST00000548694.1:n.597A>C
ENST00000552447.1:c.220A>C
NM_015335.4:c.5607A>C	NP_056150.1:p.Val1869=
XM_011538080.1:c.5643A>C	XP_011536382.1:p.Val1881=
XM_011538081.1:c.5640A>C	XP_011536383.1:p.Val1880=
XM_011538082.1:c.5613A>C	XP_011536384.1:p.Val1871=
XM_011538080.2:c.5643A>C	XP_011536382.1:p.Val1881=
XM_011538081.2:c.5640A>C	XP_011536383.1:p.Val1880=
XM_011538082.2:c.5613A>C	XP_011536384.1:p.Val1871=
XM_017019090.1:c.5604A>C	XP_016874579.1:p.Val1868=
NM_015335.5:c.5607A>C MANE Select	NP_056150.1:p.Val1869=