Canonical Allele Identifier: CA386898172

Gene: MED13L

Linked Data

• gnomAD v4: 12-116012800-G-C
• MyVariant Identifiers: chr12:g.116450605G>C (hg19) ; chr12:g.116012800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012800G>C , CM000674.2:g.116012800G>C	GRCh38
NC_000012.11:g.116450605G>C , CM000674.1:g.116450605G>C	GRCh37
NC_000012.10:g.114934988G>C	NCBI36
NG_023366.1:g.269387C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1277C>G MANE Select	ENSP00000281928.3:p.Ser426Cys
ENST00000548743.2:c.1247C>G	ENSP00000448553.2:p.Ser416Cys
ENST00000549786.2:c.705C>G
ENST00000647567.1:c.1184C>G	ENSP00000497136.1:p.Ser395Cys
ENST00000648737.1:n.1041C>G
ENST00000650226.1:c.1277C>G	ENSP00000496981.1:p.Ser426Cys
ENST00000281928.7:c.1277C>G	ENSP00000281928.3:p.Ser426Cys
NM_015335.4:c.1277C>G	NP_056150.1:p.Ser426Cys
XM_011538080.1:c.1277C>G	XP_011536382.1:p.Ser426Cys
XM_011538081.1:c.1277C>G	XP_011536383.1:p.Ser426Cys
XM_011538082.1:c.1247C>G	XP_011536384.1:p.Ser416Cys
XM_011538080.2:c.1277C>G	XP_011536382.1:p.Ser426Cys
XM_011538081.2:c.1277C>G	XP_011536383.1:p.Ser426Cys
XM_011538082.2:c.1247C>G	XP_011536384.1:p.Ser416Cys
XM_017019090.1:c.1277C>G	XP_016874579.1:p.Ser426Cys
NM_015335.5:c.1277C>G MANE Select	NP_056150.1:p.Ser426Cys