Canonical Allele Identifier: CA386887574

Gene: MED13L

Linked Data

• dbSNP Id: rs1165927230
• gnomAD v2: 12-116429250-C-T
• gnomAD v4: 12-115991445-C-T
• MyVariant Identifiers: chr12:g.116429250C>T (hg19) ; chr12:g.115991445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991445C>T , CM000674.2:g.115991445C>T	GRCh38
NC_000012.11:g.116429250C>T , CM000674.1:g.116429250C>T	GRCh37
NC_000012.10:g.114913633C>T	NCBI36
NG_023366.1:g.290742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3509G>A MANE Select	ENSP00000281928.3:p.Arg1170His
ENST00000549786.2:c.2937G>A
ENST00000648379.1:n.1877G>A
ENST00000648737.1:n.3273G>A
ENST00000648825.1:n.249G>A
ENST00000648916.1:n.1520G>A
ENST00000649607.1:c.1693G>A
ENST00000649775.1:c.6G>A
ENST00000650226.1:c.3509G>A	ENSP00000496981.1:p.Arg1170His
ENST00000281928.7:c.3509G>A	ENSP00000281928.3:p.Arg1170His
NM_015335.4:c.3509G>A	NP_056150.1:p.Arg1170His
XM_011538080.1:c.3509G>A	XP_011536382.1:p.Arg1170His
XM_011538081.1:c.3506G>A	XP_011536383.1:p.Arg1169His
XM_011538082.1:c.3479G>A	XP_011536384.1:p.Arg1160His
XM_011538080.2:c.3509G>A	XP_011536382.1:p.Arg1170His
XM_011538081.2:c.3506G>A	XP_011536383.1:p.Arg1169His
XM_011538082.2:c.3479G>A	XP_011536384.1:p.Arg1160His
XM_017019090.1:c.3506G>A	XP_016874579.1:p.Arg1169His
NM_015335.5:c.3509G>A MANE Select	NP_056150.1:p.Arg1170His