Canonical Allele Identifier: CA482137258

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429489C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991684C>G , CM000674.2:g.115991684C>G	GRCh38
NC_000012.11:g.116429489C>G , CM000674.1:g.116429489C>G	GRCh37
NC_000012.10:g.114913872C>G	NCBI36
NG_023366.1:g.290503G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3270G>C MANE Select	ENSP00000281928.3:p.Arg1090=
ENST00000548743.2:c.3240G>C	ENSP00000448553.2:p.Arg1080=
ENST00000549786.2:c.2698G>C
ENST00000648379.1:n.1638G>C
ENST00000648737.1:n.3034G>C
ENST00000648825.1:n.10G>C
ENST00000648916.1:n.1281G>C
ENST00000649607.1:c.1454G>C
ENST00000650226.1:c.3270G>C	ENSP00000496981.1:p.Arg1090=
ENST00000281928.7:c.3270G>C	ENSP00000281928.3:p.Arg1090=
NM_015335.4:c.3270G>C	NP_056150.1:p.Arg1090=
XM_011538080.1:c.3270G>C	XP_011536382.1:p.Arg1090=
XM_011538081.1:c.3267G>C	XP_011536383.1:p.Arg1089=
XM_011538082.1:c.3240G>C	XP_011536384.1:p.Arg1080=
XM_011538080.2:c.3270G>C	XP_011536382.1:p.Arg1090=
XM_011538081.2:c.3267G>C	XP_011536383.1:p.Arg1089=
XM_011538082.2:c.3240G>C	XP_011536384.1:p.Arg1080=
XM_017019090.1:c.3267G>C	XP_016874579.1:p.Arg1089=
NM_015335.5:c.3270G>C MANE Select	NP_056150.1:p.Arg1090=