Canonical Allele Identifier: CA481943246

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408553A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970748A>C , CM000674.2:g.115970748A>C	GRCh38
NC_000012.11:g.116408553A>C , CM000674.1:g.116408553A>C	GRCh37
NC_000012.10:g.114892936A>C	NCBI36
NG_023366.1:g.311439T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5913T>G MANE Select	ENSP00000281928.3:p.Val1971=
ENST00000548784.2:n.2127T>G
ENST00000648379.1:n.4281T>G
ENST00000648737.1:n.5677T>G
ENST00000648825.1:n.4098T>G
ENST00000648916.1:n.3924T>G
ENST00000649607.1:c.4097T>G
ENST00000649775.1:c.2402T>G
ENST00000650226.1:c.5949T>G	ENSP00000496981.1:p.Val1983=
ENST00000281928.7:c.5913T>G	ENSP00000281928.3:p.Val1971=
ENST00000548784.1:n.411T>G
ENST00000552447.1:c.526T>G
NM_015335.4:c.5913T>G	NP_056150.1:p.Val1971=
XM_011538080.1:c.5949T>G	XP_011536382.1:p.Val1983=
XM_011538081.1:c.5946T>G	XP_011536383.1:p.Val1982=
XM_011538082.1:c.5919T>G	XP_011536384.1:p.Val1973=
XM_011538080.2:c.5949T>G	XP_011536382.1:p.Val1983=
XM_011538081.2:c.5946T>G	XP_011536383.1:p.Val1982=
XM_011538082.2:c.5919T>G	XP_011536384.1:p.Val1973=
XM_017019090.1:c.5910T>G	XP_016874579.1:p.Val1970=
NM_015335.5:c.5913T>G MANE Select	NP_056150.1:p.Val1971=