Canonical Allele Identifier: CA386876433

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116408515T>A (hg19) ; chr12:g.115970710T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970710T>A , CM000674.2:g.115970710T>A	GRCh38
NC_000012.11:g.116408515T>A , CM000674.1:g.116408515T>A	GRCh37
NC_000012.10:g.114892898T>A	NCBI36
NG_023366.1:g.311477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5951A>T MANE Select	ENSP00000281928.3:p.Gln1984Leu
ENST00000548784.2:n.2165A>T
ENST00000648379.1:n.4319A>T
ENST00000648737.1:n.5715A>T
ENST00000648825.1:n.4136A>T
ENST00000648916.1:n.3962A>T
ENST00000649607.1:c.4135A>T
ENST00000649775.1:c.2440A>T
ENST00000650226.1:c.5987A>T	ENSP00000496981.1:p.Gln1996Leu
ENST00000281928.7:c.5951A>T	ENSP00000281928.3:p.Gln1984Leu
ENST00000548784.1:n.449A>T
ENST00000552447.1:c.564A>T
NM_015335.4:c.5951A>T	NP_056150.1:p.Gln1984Leu
XM_011538080.1:c.5987A>T	XP_011536382.1:p.Gln1996Leu
XM_011538081.1:c.5984A>T	XP_011536383.1:p.Gln1995Leu
XM_011538082.1:c.5957A>T	XP_011536384.1:p.Gln1986Leu
XM_011538080.2:c.5987A>T	XP_011536382.1:p.Gln1996Leu
XM_011538081.2:c.5984A>T	XP_011536383.1:p.Gln1995Leu
XM_011538082.2:c.5957A>T	XP_011536384.1:p.Gln1986Leu
XM_017019090.1:c.5948A>T	XP_016874579.1:p.Gln1983Leu
NM_015335.5:c.5951A>T MANE Select	NP_056150.1:p.Gln1984Leu