Canonical Allele Identifier: CA386889033

Gene: MED13L

Linked Data

• gnomAD v4: 12-115991883-A-C
• MyVariant Identifiers: chr12:g.116429688A>C (hg19) ; chr12:g.115991883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991883A>C , CM000674.2:g.115991883A>C	GRCh38
NC_000012.11:g.116429688A>C , CM000674.1:g.116429688A>C	GRCh37
NC_000012.10:g.114914071A>C	NCBI36
NG_023366.1:g.290304T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3071T>G MANE Select	ENSP00000281928.3:p.Leu1024Trp
ENST00000548743.2:c.3041T>G	ENSP00000448553.2:p.Leu1014Trp
ENST00000549786.2:c.2499T>G
ENST00000648173.1:n.1866T>G
ENST00000648379.1:n.1439T>G
ENST00000648737.1:n.2835T>G
ENST00000648916.1:n.1082T>G
ENST00000649607.1:c.1255T>G
ENST00000650226.1:c.3071T>G	ENSP00000496981.1:p.Leu1024Trp
ENST00000281928.7:c.3071T>G	ENSP00000281928.3:p.Leu1024Trp
NM_015335.4:c.3071T>G	NP_056150.1:p.Leu1024Trp
XM_011538080.1:c.3071T>G	XP_011536382.1:p.Leu1024Trp
XM_011538081.1:c.3068T>G	XP_011536383.1:p.Leu1023Trp
XM_011538082.1:c.3041T>G	XP_011536384.1:p.Leu1014Trp
XM_011538080.2:c.3071T>G	XP_011536382.1:p.Leu1024Trp
XM_011538081.2:c.3068T>G	XP_011536383.1:p.Leu1023Trp
XM_011538082.2:c.3041T>G	XP_011536384.1:p.Leu1014Trp
XM_017019090.1:c.3068T>G	XP_016874579.1:p.Leu1023Trp
NM_015335.5:c.3071T>G MANE Select	NP_056150.1:p.Leu1024Trp