Canonical Allele Identifier: CA386876076

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408403G>C (hg19) ; chr12:g.115970598G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970598G>C , CM000674.2:g.115970598G>C	GRCh38
NC_000012.11:g.116408403G>C , CM000674.1:g.116408403G>C	GRCh37
NC_000012.10:g.114892786G>C	NCBI36
NG_023366.1:g.311589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6063C>G MANE Select	ENSP00000281928.3:p.Asn2021Lys
ENST00000548784.2:n.2277C>G
ENST00000648379.1:n.4431C>G
ENST00000648737.1:n.5827C>G
ENST00000648825.1:n.4248C>G
ENST00000648916.1:n.4074C>G
ENST00000649607.1:c.4247C>G
ENST00000649775.1:c.2552C>G
ENST00000650226.1:c.6099C>G	ENSP00000496981.1:p.Asn2033Lys
ENST00000281928.7:c.6063C>G	ENSP00000281928.3:p.Asn2021Lys
NM_015335.4:c.6063C>G	NP_056150.1:p.Asn2021Lys
XM_011538080.1:c.6099C>G	XP_011536382.1:p.Asn2033Lys
XM_011538081.1:c.6096C>G	XP_011536383.1:p.Asn2032Lys
XM_011538082.1:c.6069C>G	XP_011536384.1:p.Asn2023Lys
XM_011538080.2:c.6099C>G	XP_011536382.1:p.Asn2033Lys
XM_011538081.2:c.6096C>G	XP_011536383.1:p.Asn2032Lys
XM_011538082.2:c.6069C>G	XP_011536384.1:p.Asn2023Lys
XM_017019090.1:c.6060C>G	XP_016874579.1:p.Asn2020Lys
NM_015335.5:c.6063C>G MANE Select	NP_056150.1:p.Asn2021Lys