Canonical Allele Identifier: CA6810974

Gene: MED13L

Linked Data

• ClinVar Variation Id: 464490
• ClinVar RCV Id: RCV000543892 ; RCV002526114 ; RCV004537968 ; RCV000763795
• dbSNP Id: rs201987892
• ExAC: 12:116429242 C / T
• gnomAD v2: 12-116429242-C-T
• gnomAD v3: 12-115991437-C-T
• gnomAD v4: 12-115991437-C-T
• MyVariant Identifiers: chr12:g.116429242C>T (hg19) ; chr12:g.115991437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991437C>T , CM000674.2:g.115991437C>T	GRCh38
NC_000012.11:g.116429242C>T , CM000674.1:g.116429242C>T	GRCh37
NC_000012.10:g.114913625C>T	NCBI36
NG_023366.1:g.290750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3517G>A MANE Select	ENSP00000281928.3:p.Gly1173Ser
ENST00000549786.2:c.2945G>A
ENST00000648379.1:n.1885G>A
ENST00000648737.1:n.3281G>A
ENST00000648825.1:n.257G>A
ENST00000648916.1:n.1528G>A
ENST00000649607.1:c.1701G>A
ENST00000649775.1:c.14G>A
ENST00000650226.1:c.3517G>A	ENSP00000496981.1:p.Gly1173Ser
ENST00000281928.7:c.3517G>A	ENSP00000281928.3:p.Gly1173Ser
NM_015335.4:c.3517G>A	NP_056150.1:p.Gly1173Ser
XM_011538080.1:c.3517G>A	XP_011536382.1:p.Gly1173Ser
XM_011538081.1:c.3514G>A	XP_011536383.1:p.Gly1172Ser
XM_011538082.1:c.3487G>A	XP_011536384.1:p.Gly1163Ser
XM_011538080.2:c.3517G>A	XP_011536382.1:p.Gly1173Ser
XM_011538081.2:c.3514G>A	XP_011536383.1:p.Gly1172Ser
XM_011538082.2:c.3487G>A	XP_011536384.1:p.Gly1163Ser
XM_017019090.1:c.3514G>A	XP_016874579.1:p.Gly1172Ser
NM_015335.5:c.3517G>A MANE Select	NP_056150.1:p.Gly1173Ser