Canonical Allele Identifier: CA386887910

Gene: MED13L

Linked Data

• dbSNP Id: rs1232676878
• gnomAD v3: 12-115991578-T-C
• gnomAD v4: 12-115991578-T-C
• MyVariant Identifiers: chr12:g.116429383T>C (hg19) ; chr12:g.115991578T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991578T>C , CM000674.2:g.115991578T>C	GRCh38
NC_000012.11:g.116429383T>C , CM000674.1:g.116429383T>C	GRCh37
NC_000012.10:g.114913766T>C	NCBI36
NG_023366.1:g.290609A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3376A>G MANE Select	ENSP00000281928.3:p.Arg1126Gly
ENST00000549786.2:c.2804A>G
ENST00000648379.1:n.1744A>G
ENST00000648737.1:n.3140A>G
ENST00000648825.1:n.116A>G
ENST00000648916.1:n.1387A>G
ENST00000649607.1:c.1560A>G
ENST00000650226.1:c.3376A>G	ENSP00000496981.1:p.Arg1126Gly
ENST00000281928.7:c.3376A>G	ENSP00000281928.3:p.Arg1126Gly
NM_015335.4:c.3376A>G	NP_056150.1:p.Arg1126Gly
XM_011538080.1:c.3376A>G	XP_011536382.1:p.Arg1126Gly
XM_011538081.1:c.3373A>G	XP_011536383.1:p.Arg1125Gly
XM_011538082.1:c.3346A>G	XP_011536384.1:p.Arg1116Gly
XM_011538080.2:c.3376A>G	XP_011536382.1:p.Arg1126Gly
XM_011538081.2:c.3373A>G	XP_011536383.1:p.Arg1125Gly
XM_011538082.2:c.3346A>G	XP_011536384.1:p.Arg1116Gly
XM_017019090.1:c.3373A>G	XP_016874579.1:p.Arg1125Gly
NM_015335.5:c.3376A>G MANE Select	NP_056150.1:p.Arg1126Gly