Canonical Allele Identifier: CA386876141

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408430G>T (hg19) ; chr12:g.115970625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970625G>T , CM000674.2:g.115970625G>T	GRCh38
NC_000012.11:g.116408430G>T , CM000674.1:g.116408430G>T	GRCh37
NC_000012.10:g.114892813G>T	NCBI36
NG_023366.1:g.311562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.6036C>A MANE Select	ENSP00000281928.3:p.Tyr2012Ter
ENST00000548784.2:n.2250C>A
ENST00000648379.1:n.4404C>A
ENST00000648737.1:n.5800C>A
ENST00000648825.1:n.4221C>A
ENST00000648916.1:n.4047C>A
ENST00000649607.1:c.4220C>A
ENST00000649775.1:c.2525C>A
ENST00000650226.1:c.6072C>A	ENSP00000496981.1:p.Tyr2024Ter
ENST00000281928.7:c.6036C>A	ENSP00000281928.3:p.Tyr2012Ter
NM_015335.4:c.6036C>A	NP_056150.1:p.Tyr2012Ter
XM_011538080.1:c.6072C>A	XP_011536382.1:p.Tyr2024Ter
XM_011538081.1:c.6069C>A	XP_011536383.1:p.Tyr2023Ter
XM_011538082.1:c.6042C>A	XP_011536384.1:p.Tyr2014Ter
XM_011538080.2:c.6072C>A	XP_011536382.1:p.Tyr2024Ter
XM_011538081.2:c.6069C>A	XP_011536383.1:p.Tyr2023Ter
XM_011538082.2:c.6042C>A	XP_011536384.1:p.Tyr2014Ter
XM_017019090.1:c.6033C>A	XP_016874579.1:p.Tyr2011Ter
NM_015335.5:c.6036C>A MANE Select	NP_056150.1:p.Tyr2012Ter