Canonical Allele Identifier: CA386876100

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408413A>G (hg19) ; chr12:g.115970608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970608A>G , CM000674.2:g.115970608A>G	GRCh38
NC_000012.11:g.116408413A>G , CM000674.1:g.116408413A>G	GRCh37
NC_000012.10:g.114892796A>G	NCBI36
NG_023366.1:g.311579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6053T>C MANE Select	ENSP00000281928.3:p.Phe2018Ser
ENST00000548784.2:n.2267T>C
ENST00000648379.1:n.4421T>C
ENST00000648737.1:n.5817T>C
ENST00000648825.1:n.4238T>C
ENST00000648916.1:n.4064T>C
ENST00000649607.1:c.4237T>C
ENST00000649775.1:c.2542T>C
ENST00000650226.1:c.6089T>C	ENSP00000496981.1:p.Phe2030Ser
ENST00000281928.7:c.6053T>C	ENSP00000281928.3:p.Phe2018Ser
NM_015335.4:c.6053T>C	NP_056150.1:p.Phe2018Ser
XM_011538080.1:c.6089T>C	XP_011536382.1:p.Phe2030Ser
XM_011538081.1:c.6086T>C	XP_011536383.1:p.Phe2029Ser
XM_011538082.1:c.6059T>C	XP_011536384.1:p.Phe2020Ser
XM_011538080.2:c.6089T>C	XP_011536382.1:p.Phe2030Ser
XM_011538081.2:c.6086T>C	XP_011536383.1:p.Phe2029Ser
XM_011538082.2:c.6059T>C	XP_011536384.1:p.Phe2020Ser
XM_017019090.1:c.6050T>C	XP_016874579.1:p.Phe2017Ser
NM_015335.5:c.6053T>C MANE Select	NP_056150.1:p.Phe2018Ser