Canonical Allele Identifier: CA482137161

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429408A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991603A>G , CM000674.2:g.115991603A>G	GRCh38
NC_000012.11:g.116429408A>G , CM000674.1:g.116429408A>G	GRCh37
NC_000012.10:g.114913791A>G	NCBI36
NG_023366.1:g.290584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3351T>C MANE Select	ENSP00000281928.3:p.Asp1117=
ENST00000549786.2:c.2779T>C
ENST00000648379.1:n.1719T>C
ENST00000648737.1:n.3115T>C
ENST00000648825.1:n.91T>C
ENST00000648916.1:n.1362T>C
ENST00000649607.1:c.1535T>C
ENST00000650226.1:c.3351T>C	ENSP00000496981.1:p.Asp1117=
ENST00000281928.7:c.3351T>C	ENSP00000281928.3:p.Asp1117=
NM_015335.4:c.3351T>C	NP_056150.1:p.Asp1117=
XM_011538080.1:c.3351T>C	XP_011536382.1:p.Asp1117=
XM_011538081.1:c.3348T>C	XP_011536383.1:p.Asp1116=
XM_011538082.1:c.3321T>C	XP_011536384.1:p.Asp1107=
XM_011538080.2:c.3351T>C	XP_011536382.1:p.Asp1117=
XM_011538081.2:c.3348T>C	XP_011536383.1:p.Asp1116=
XM_011538082.2:c.3321T>C	XP_011536384.1:p.Asp1107=
XM_017019090.1:c.3348T>C	XP_016874579.1:p.Asp1116=
NM_015335.5:c.3351T>C MANE Select	NP_056150.1:p.Asp1117=