Canonical Allele Identifier: CA6810675

Gene: MED13L

Linked Data

• ClinVar Variation Id: 2904431
• ClinVar RCV Id: RCV003603708
• dbSNP Id: rs759517262
• ExAC: 12:116420254 T / C
• gnomAD v2: 12-116420254-T-C
• gnomAD v4: 12-115982449-T-C
• MyVariant Identifiers: chr12:g.116420254T>C (hg19) ; chr12:g.115982449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982449T>C , CM000674.2:g.115982449T>C	GRCh38
NC_000012.11:g.116420254T>C , CM000674.1:g.116420254T>C	GRCh37
NC_000012.10:g.114904637T>C	NCBI36
NG_023366.1:g.299738A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5110A>G MANE Select	ENSP00000281928.3:p.Met1704Val
ENST00000549786.2:c.4538A>G
ENST00000648379.1:n.3478A>G
ENST00000648737.1:n.4874A>G
ENST00000648825.1:n.1850A>G
ENST00000648916.1:n.3121A>G
ENST00000649146.1:n.2353A>G
ENST00000649607.1:c.3294A>G
ENST00000649775.1:c.1599A>G
ENST00000650226.1:c.5110A>G	ENSP00000496981.1:p.Met1704Val
ENST00000281928.7:c.5110A>G	ENSP00000281928.3:p.Met1704Val
ENST00000549786.1:c.474A>G
ENST00000552340.1:c.142A>G	ENSP00000449876.1:p.Met48Val
NM_015335.4:c.5110A>G	NP_056150.1:p.Met1704Val
XM_011538080.1:c.5110A>G	XP_011536382.1:p.Met1704Val
XM_011538081.1:c.5107A>G	XP_011536383.1:p.Met1703Val
XM_011538082.1:c.5080A>G	XP_011536384.1:p.Met1694Val
XM_011538080.2:c.5110A>G	XP_011536382.1:p.Met1704Val
XM_011538081.2:c.5107A>G	XP_011536383.1:p.Met1703Val
XM_011538082.2:c.5080A>G	XP_011536384.1:p.Met1694Val
XM_017019090.1:c.5107A>G	XP_016874579.1:p.Met1703Val
NM_015335.5:c.5110A>G MANE Select	NP_056150.1:p.Met1704Val