Canonical Allele Identifier: CA386890664

Gene: MED13L

Linked Data

• gnomAD v4: 12-115997111-T-C
• MyVariant Identifiers: chr12:g.116434916T>C (hg19) ; chr12:g.115997111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997111T>C , CM000674.2:g.115997111T>C	GRCh38
NC_000012.11:g.116434916T>C , CM000674.1:g.116434916T>C	GRCh37
NC_000012.10:g.114919299T>C	NCBI36
NG_023366.1:g.285076A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2689A>G MANE Select	ENSP00000281928.3:p.Met897Val
ENST00000548743.2:c.2659A>G	ENSP00000448553.2:p.Met887Val
ENST00000549786.2:c.2117A>G
ENST00000647927.1:n.3062A>G
ENST00000648173.1:n.1484A>G
ENST00000648379.1:n.1057A>G
ENST00000648737.1:n.2453A>G
ENST00000648916.1:n.700A>G
ENST00000649607.1:c.873A>G
ENST00000650226.1:c.2689A>G	ENSP00000496981.1:p.Met897Val
ENST00000281928.7:c.2689A>G	ENSP00000281928.3:p.Met897Val
NM_015335.4:c.2689A>G	NP_056150.1:p.Met897Val
XM_011538080.1:c.2689A>G	XP_011536382.1:p.Met897Val
XM_011538081.1:c.2686A>G	XP_011536383.1:p.Met896Val
XM_011538082.1:c.2659A>G	XP_011536384.1:p.Met887Val
XM_011538080.2:c.2689A>G	XP_011536382.1:p.Met897Val
XM_011538081.2:c.2686A>G	XP_011536383.1:p.Met896Val
XM_011538082.2:c.2659A>G	XP_011536384.1:p.Met887Val
XM_017019090.1:c.2686A>G	XP_016874579.1:p.Met896Val
NM_015335.5:c.2689A>G MANE Select	NP_056150.1:p.Met897Val