Canonical Allele Identifier: CA386876506

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408529G>C (hg19) ; chr12:g.115970724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970724G>C , CM000674.2:g.115970724G>C	GRCh38
NC_000012.11:g.116408529G>C , CM000674.1:g.116408529G>C	GRCh37
NC_000012.10:g.114892912G>C	NCBI36
NG_023366.1:g.311463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5937C>G MANE Select	ENSP00000281928.3:p.Asn1979Lys
ENST00000548784.2:n.2151C>G
ENST00000648379.1:n.4305C>G
ENST00000648737.1:n.5701C>G
ENST00000648825.1:n.4122C>G
ENST00000648916.1:n.3948C>G
ENST00000649607.1:c.4121C>G
ENST00000649775.1:c.2426C>G
ENST00000650226.1:c.5973C>G	ENSP00000496981.1:p.Asn1991Lys
ENST00000281928.7:c.5937C>G	ENSP00000281928.3:p.Asn1979Lys
ENST00000548784.1:n.435C>G
ENST00000552447.1:c.550C>G
NM_015335.4:c.5937C>G	NP_056150.1:p.Asn1979Lys
XM_011538080.1:c.5973C>G	XP_011536382.1:p.Asn1991Lys
XM_011538081.1:c.5970C>G	XP_011536383.1:p.Asn1990Lys
XM_011538082.1:c.5943C>G	XP_011536384.1:p.Asn1981Lys
XM_011538080.2:c.5973C>G	XP_011536382.1:p.Asn1991Lys
XM_011538081.2:c.5970C>G	XP_011536383.1:p.Asn1990Lys
XM_011538082.2:c.5943C>G	XP_011536384.1:p.Asn1981Lys
XM_017019090.1:c.5934C>G	XP_016874579.1:p.Asn1978Lys
NM_015335.5:c.5937C>G MANE Select	NP_056150.1:p.Asn1979Lys