Canonical Allele Identifier: CA386887927

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429386C>A (hg19) ; chr12:g.115991581C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991581C>A , CM000674.2:g.115991581C>A	GRCh38
NC_000012.11:g.116429386C>A , CM000674.1:g.116429386C>A	GRCh37
NC_000012.10:g.114913769C>A	NCBI36
NG_023366.1:g.290606G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3373G>T MANE Select	ENSP00000281928.3:p.Asp1125Tyr
ENST00000549786.2:c.2801G>T
ENST00000648379.1:n.1741G>T
ENST00000648737.1:n.3137G>T
ENST00000648825.1:n.113G>T
ENST00000648916.1:n.1384G>T
ENST00000649607.1:c.1557G>T
ENST00000650226.1:c.3373G>T	ENSP00000496981.1:p.Asp1125Tyr
ENST00000281928.7:c.3373G>T	ENSP00000281928.3:p.Asp1125Tyr
NM_015335.4:c.3373G>T	NP_056150.1:p.Asp1125Tyr
XM_011538080.1:c.3373G>T	XP_011536382.1:p.Asp1125Tyr
XM_011538081.1:c.3370G>T	XP_011536383.1:p.Asp1124Tyr
XM_011538082.1:c.3343G>T	XP_011536384.1:p.Asp1115Tyr
XM_011538080.2:c.3373G>T	XP_011536382.1:p.Asp1125Tyr
XM_011538081.2:c.3370G>T	XP_011536383.1:p.Asp1124Tyr
XM_011538082.2:c.3343G>T	XP_011536384.1:p.Asp1115Tyr
XM_017019090.1:c.3370G>T	XP_016874579.1:p.Asp1124Tyr
NM_015335.5:c.3373G>T MANE Select	NP_056150.1:p.Asp1125Tyr