Canonical Allele Identifier: CA386890902

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435023A>C (hg19) ; chr12:g.115997218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997218A>C , CM000674.2:g.115997218A>C	GRCh38
NC_000012.11:g.116435023A>C , CM000674.1:g.116435023A>C	GRCh37
NC_000012.10:g.114919406A>C	NCBI36
NG_023366.1:g.284969T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2582T>G MANE Select	ENSP00000281928.3:p.Leu861Trp
ENST00000548743.2:c.2552T>G	ENSP00000448553.2:p.Leu851Trp
ENST00000549786.2:c.2010T>G
ENST00000647927.1:n.2955T>G
ENST00000648173.1:n.1377T>G
ENST00000648379.1:n.950T>G
ENST00000648737.1:n.2346T>G
ENST00000648916.1:n.593T>G
ENST00000649607.1:c.766T>G
ENST00000650226.1:c.2582T>G	ENSP00000496981.1:p.Leu861Trp
ENST00000281928.7:c.2582T>G	ENSP00000281928.3:p.Leu861Trp
NM_015335.4:c.2582T>G	NP_056150.1:p.Leu861Trp
XM_011538080.1:c.2582T>G	XP_011536382.1:p.Leu861Trp
XM_011538081.1:c.2579T>G	XP_011536383.1:p.Leu860Trp
XM_011538082.1:c.2552T>G	XP_011536384.1:p.Leu851Trp
XM_011538080.2:c.2582T>G	XP_011536382.1:p.Leu861Trp
XM_011538081.2:c.2579T>G	XP_011536383.1:p.Leu860Trp
XM_011538082.2:c.2552T>G	XP_011536384.1:p.Leu851Trp
XM_017019090.1:c.2579T>G	XP_016874579.1:p.Leu860Trp
NM_015335.5:c.2582T>G MANE Select	NP_056150.1:p.Leu861Trp