Canonical Allele Identifier: CA386887827

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429357A>C (hg19) ; chr12:g.115991552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991552A>C , CM000674.2:g.115991552A>C	GRCh38
NC_000012.11:g.116429357A>C , CM000674.1:g.116429357A>C	GRCh37
NC_000012.10:g.114913740A>C	NCBI36
NG_023366.1:g.290635T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3402T>G MANE Select	ENSP00000281928.3:p.Cys1134Trp
ENST00000549786.2:c.2830T>G
ENST00000648379.1:n.1770T>G
ENST00000648737.1:n.3166T>G
ENST00000648825.1:n.142T>G
ENST00000648916.1:n.1413T>G
ENST00000649607.1:c.1586T>G
ENST00000650226.1:c.3402T>G	ENSP00000496981.1:p.Cys1134Trp
ENST00000281928.7:c.3402T>G	ENSP00000281928.3:p.Cys1134Trp
NM_015335.4:c.3402T>G	NP_056150.1:p.Cys1134Trp
XM_011538080.1:c.3402T>G	XP_011536382.1:p.Cys1134Trp
XM_011538081.1:c.3399T>G	XP_011536383.1:p.Cys1133Trp
XM_011538082.1:c.3372T>G	XP_011536384.1:p.Cys1124Trp
XM_011538080.2:c.3402T>G	XP_011536382.1:p.Cys1134Trp
XM_011538081.2:c.3399T>G	XP_011536383.1:p.Cys1133Trp
XM_011538082.2:c.3372T>G	XP_011536384.1:p.Cys1124Trp
XM_017019090.1:c.3399T>G	XP_016874579.1:p.Cys1133Trp
NM_015335.5:c.3402T>G MANE Select	NP_056150.1:p.Cys1134Trp