Canonical Allele Identifier: CA6810973

Gene: MED13L

Linked Data

• ClinVar Variation Id: 638489
• ClinVar RCV Id: RCV000791163
• dbSNP Id: rs773730403
• ExAC: 12:116429241 C / A
• gnomAD v2: 12-116429241-C-A
• gnomAD v4: 12-115991436-C-A
• MyVariant Identifiers: chr12:g.116429241C>A (hg19) ; chr12:g.115991436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991436C>A , CM000674.2:g.115991436C>A	GRCh38
NC_000012.11:g.116429241C>A , CM000674.1:g.116429241C>A	GRCh37
NC_000012.10:g.114913624C>A	NCBI36
NG_023366.1:g.290751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3518G>T MANE Select	ENSP00000281928.3:p.Gly1173Val
ENST00000549786.2:c.2946G>T
ENST00000648379.1:n.1886G>T
ENST00000648737.1:n.3282G>T
ENST00000648825.1:n.258G>T
ENST00000648916.1:n.1529G>T
ENST00000649607.1:c.1702G>T
ENST00000649775.1:c.15G>T
ENST00000650226.1:c.3518G>T	ENSP00000496981.1:p.Gly1173Val
ENST00000281928.7:c.3518G>T	ENSP00000281928.3:p.Gly1173Val
NM_015335.4:c.3518G>T	NP_056150.1:p.Gly1173Val
XM_011538080.1:c.3518G>T	XP_011536382.1:p.Gly1173Val
XM_011538081.1:c.3515G>T	XP_011536383.1:p.Gly1172Val
XM_011538082.1:c.3488G>T	XP_011536384.1:p.Gly1163Val
XM_011538080.2:c.3518G>T	XP_011536382.1:p.Gly1173Val
XM_011538081.2:c.3515G>T	XP_011536383.1:p.Gly1172Val
XM_011538082.2:c.3488G>T	XP_011536384.1:p.Gly1163Val
XM_017019090.1:c.3515G>T	XP_016874579.1:p.Gly1172Val
NM_015335.5:c.3518G>T MANE Select	NP_056150.1:p.Gly1173Val