Canonical Allele Identifier: CA386874591

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116403939C>A (hg19) ; chr12:g.115966134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115966134C>A , CM000674.2:g.115966134C>A	GRCh38
NC_000012.11:g.116403939C>A , CM000674.1:g.116403939C>A	GRCh37
NC_000012.10:g.114888322C>A	NCBI36
NG_023366.1:g.316053G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.6335G>T MANE Select	ENSP00000281928.3:p.Trp2112Leu
ENST00000548784.2:n.2549G>T
ENST00000648379.1:n.4703G>T
ENST00000648737.1:n.6099G>T
ENST00000648762.1:n.1025G>T
ENST00000648825.1:n.4520G>T
ENST00000648916.1:n.4346G>T
ENST00000649607.1:c.4519G>T
ENST00000649775.1:c.2666G>T
ENST00000650226.1:c.6371G>T	ENSP00000496981.1:p.Trp2124Leu
ENST00000281928.7:c.6335G>T	ENSP00000281928.3:p.Trp2112Leu
NM_015335.4:c.6335G>T	NP_056150.1:p.Trp2112Leu
XM_011538080.1:c.6371G>T	XP_011536382.1:p.Trp2124Leu
XM_011538081.1:c.6368G>T	XP_011536383.1:p.Trp2123Leu
XM_011538082.1:c.6341G>T	XP_011536384.1:p.Trp2114Leu
XM_011538080.2:c.6371G>T	XP_011536382.1:p.Trp2124Leu
XM_011538081.2:c.6368G>T	XP_011536383.1:p.Trp2123Leu
XM_011538082.2:c.6341G>T	XP_011536384.1:p.Trp2114Leu
XM_017019090.1:c.6332G>T	XP_016874579.1:p.Trp2111Leu
NM_015335.5:c.6335G>T MANE Select	NP_056150.1:p.Trp2112Leu