Canonical Allele Identifier: CA386876513

Gene: MED13L

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5936A>C MANE Select	ENSP00000281928.3:p.Asn1979Thr
ENST00000548784.2:n.2150A>C
ENST00000648379.1:n.4304A>C
ENST00000648737.1:n.5700A>C
ENST00000648825.1:n.4121A>C
ENST00000648916.1:n.3947A>C
ENST00000649607.1:c.4120A>C
ENST00000649775.1:c.2425A>C
ENST00000650226.1:c.5972A>C	ENSP00000496981.1:p.Asn1991Thr
ENST00000281928.7:c.5936A>C	ENSP00000281928.3:p.Asn1979Thr
ENST00000548784.1:n.434A>C
ENST00000552447.1:c.549A>C
NM_015335.4:c.5936A>C	NP_056150.1:p.Asn1979Thr
XM_011538080.1:c.5972A>C	XP_011536382.1:p.Asn1991Thr
XM_011538081.1:c.5969A>C	XP_011536383.1:p.Asn1990Thr
XM_011538082.1:c.5942A>C	XP_011536384.1:p.Asn1981Thr
XM_011538080.2:c.5972A>C	XP_011536382.1:p.Asn1991Thr
XM_011538081.2:c.5969A>C	XP_011536383.1:p.Asn1990Thr
XM_011538082.2:c.5942A>C	XP_011536384.1:p.Asn1981Thr
XM_017019090.1:c.5933A>C	XP_016874579.1:p.Asn1978Thr
NM_015335.5:c.5936A>C MANE Select	NP_056150.1:p.Asn1979Thr