Canonical Allele Identifier: CA386887873

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429374C>G (hg19) ; chr12:g.115991569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991569C>G , CM000674.2:g.115991569C>G	GRCh38
NC_000012.11:g.116429374C>G , CM000674.1:g.116429374C>G	GRCh37
NC_000012.10:g.114913757C>G	NCBI36
NG_023366.1:g.290618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3385G>C MANE Select	ENSP00000281928.3:p.Asp1129His
ENST00000549786.2:c.2813G>C
ENST00000648379.1:n.1753G>C
ENST00000648737.1:n.3149G>C
ENST00000648825.1:n.125G>C
ENST00000648916.1:n.1396G>C
ENST00000649607.1:c.1569G>C
ENST00000650226.1:c.3385G>C	ENSP00000496981.1:p.Asp1129His
ENST00000281928.7:c.3385G>C	ENSP00000281928.3:p.Asp1129His
NM_015335.4:c.3385G>C	NP_056150.1:p.Asp1129His
XM_011538080.1:c.3385G>C	XP_011536382.1:p.Asp1129His
XM_011538081.1:c.3382G>C	XP_011536383.1:p.Asp1128His
XM_011538082.1:c.3355G>C	XP_011536384.1:p.Asp1119His
XM_011538080.2:c.3385G>C	XP_011536382.1:p.Asp1129His
XM_011538081.2:c.3382G>C	XP_011536383.1:p.Asp1128His
XM_011538082.2:c.3355G>C	XP_011536384.1:p.Asp1119His
XM_017019090.1:c.3382G>C	XP_016874579.1:p.Asp1128His
NM_015335.5:c.3385G>C MANE Select	NP_056150.1:p.Asp1129His