Canonical Allele Identifier: CA386881339

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420349G>C (hg19) ; chr12:g.115982544G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982544G>C , CM000674.2:g.115982544G>C	GRCh38
NC_000012.11:g.116420349G>C , CM000674.1:g.116420349G>C	GRCh37
NC_000012.10:g.114904732G>C	NCBI36
NG_023366.1:g.299643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5015C>G MANE Select	ENSP00000281928.3:p.Ala1672Gly
ENST00000549786.2:c.4443C>G
ENST00000648379.1:n.3383C>G
ENST00000648737.1:n.4779C>G
ENST00000648825.1:n.1755C>G
ENST00000648916.1:n.3026C>G
ENST00000649146.1:n.2258C>G
ENST00000649607.1:c.3199C>G
ENST00000649775.1:c.1504C>G
ENST00000650226.1:c.5015C>G	ENSP00000496981.1:p.Ala1672Gly
ENST00000281928.7:c.5015C>G	ENSP00000281928.3:p.Ala1672Gly
ENST00000549786.1:c.379C>G
ENST00000552340.1:c.47C>G	ENSP00000449876.1:p.Ala16Gly
NM_015335.4:c.5015C>G	NP_056150.1:p.Ala1672Gly
XM_011538080.1:c.5015C>G	XP_011536382.1:p.Ala1672Gly
XM_011538081.1:c.5012C>G	XP_011536383.1:p.Ala1671Gly
XM_011538082.1:c.4985C>G	XP_011536384.1:p.Ala1662Gly
XM_011538080.2:c.5015C>G	XP_011536382.1:p.Ala1672Gly
XM_011538081.2:c.5012C>G	XP_011536383.1:p.Ala1671Gly
XM_011538082.2:c.4985C>G	XP_011536384.1:p.Ala1662Gly
XM_017019090.1:c.5012C>G	XP_016874579.1:p.Ala1671Gly
NM_015335.5:c.5015C>G MANE Select	NP_056150.1:p.Ala1672Gly