Canonical Allele Identifier: CA386876490

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408526C>A (hg19) ; chr12:g.115970721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970721C>A , CM000674.2:g.115970721C>A	GRCh38
NC_000012.11:g.116408526C>A , CM000674.1:g.116408526C>A	GRCh37
NC_000012.10:g.114892909C>A	NCBI36
NG_023366.1:g.311466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5940G>T MANE Select	ENSP00000281928.3:p.Met1980Ile
ENST00000548784.2:n.2154G>T
ENST00000648379.1:n.4308G>T
ENST00000648737.1:n.5704G>T
ENST00000648825.1:n.4125G>T
ENST00000648916.1:n.3951G>T
ENST00000649607.1:c.4124G>T
ENST00000649775.1:c.2429G>T
ENST00000650226.1:c.5976G>T	ENSP00000496981.1:p.Met1992Ile
ENST00000281928.7:c.5940G>T	ENSP00000281928.3:p.Met1980Ile
ENST00000548784.1:n.438G>T
ENST00000552447.1:c.553G>T
NM_015335.4:c.5940G>T	NP_056150.1:p.Met1980Ile
XM_011538080.1:c.5976G>T	XP_011536382.1:p.Met1992Ile
XM_011538081.1:c.5973G>T	XP_011536383.1:p.Met1991Ile
XM_011538082.1:c.5946G>T	XP_011536384.1:p.Met1982Ile
XM_011538080.2:c.5976G>T	XP_011536382.1:p.Met1992Ile
XM_011538081.2:c.5973G>T	XP_011536383.1:p.Met1991Ile
XM_011538082.2:c.5946G>T	XP_011536384.1:p.Met1982Ile
XM_017019090.1:c.5937G>T	XP_016874579.1:p.Met1979Ile
NM_015335.5:c.5940G>T MANE Select	NP_056150.1:p.Met1980Ile