Canonical Allele Identifier: CA386889173

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429757A>C (hg19) ; chr12:g.115991952A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991952A>C , CM000674.2:g.115991952A>C	GRCh38
NC_000012.11:g.116429757A>C , CM000674.1:g.116429757A>C	GRCh37
NC_000012.10:g.114914140A>C	NCBI36
NG_023366.1:g.290235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3002T>G MANE Select	ENSP00000281928.3:p.Val1001Gly
ENST00000548743.2:c.2972T>G	ENSP00000448553.2:p.Val991Gly
ENST00000549786.2:c.2430T>G
ENST00000648173.1:n.1797T>G
ENST00000648379.1:n.1370T>G
ENST00000648737.1:n.2766T>G
ENST00000648916.1:n.1013T>G
ENST00000649607.1:c.1186T>G
ENST00000650226.1:c.3002T>G	ENSP00000496981.1:p.Val1001Gly
ENST00000281928.7:c.3002T>G	ENSP00000281928.3:p.Val1001Gly
NM_015335.4:c.3002T>G	NP_056150.1:p.Val1001Gly
XM_011538080.1:c.3002T>G	XP_011536382.1:p.Val1001Gly
XM_011538081.1:c.2999T>G	XP_011536383.1:p.Val1000Gly
XM_011538082.1:c.2972T>G	XP_011536384.1:p.Val991Gly
XM_011538080.2:c.3002T>G	XP_011536382.1:p.Val1001Gly
XM_011538081.2:c.2999T>G	XP_011536383.1:p.Val1000Gly
XM_011538082.2:c.2972T>G	XP_011536384.1:p.Val991Gly
XM_017019090.1:c.2999T>G	XP_016874579.1:p.Val1000Gly
NM_015335.5:c.3002T>G MANE Select	NP_056150.1:p.Val1001Gly