Canonical Allele Identifier: CA386876512

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408530T>C (hg19) ; chr12:g.115970725T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970725T>C , CM000674.2:g.115970725T>C	GRCh38
NC_000012.11:g.116408530T>C , CM000674.1:g.116408530T>C	GRCh37
NC_000012.10:g.114892913T>C	NCBI36
NG_023366.1:g.311462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5936A>G MANE Select	ENSP00000281928.3:p.Asn1979Ser
ENST00000548784.2:n.2150A>G
ENST00000648379.1:n.4304A>G
ENST00000648737.1:n.5700A>G
ENST00000648825.1:n.4121A>G
ENST00000648916.1:n.3947A>G
ENST00000649607.1:c.4120A>G
ENST00000649775.1:c.2425A>G
ENST00000650226.1:c.5972A>G	ENSP00000496981.1:p.Asn1991Ser
ENST00000281928.7:c.5936A>G	ENSP00000281928.3:p.Asn1979Ser
ENST00000548784.1:n.434A>G
ENST00000552447.1:c.549A>G
NM_015335.4:c.5936A>G	NP_056150.1:p.Asn1979Ser
XM_011538080.1:c.5972A>G	XP_011536382.1:p.Asn1991Ser
XM_011538081.1:c.5969A>G	XP_011536383.1:p.Asn1990Ser
XM_011538082.1:c.5942A>G	XP_011536384.1:p.Asn1981Ser
XM_011538080.2:c.5972A>G	XP_011536382.1:p.Asn1991Ser
XM_011538081.2:c.5969A>G	XP_011536383.1:p.Asn1990Ser
XM_011538082.2:c.5942A>G	XP_011536384.1:p.Asn1981Ser
XM_017019090.1:c.5933A>G	XP_016874579.1:p.Asn1978Ser
NM_015335.5:c.5936A>G MANE Select	NP_056150.1:p.Asn1979Ser