Canonical Allele Identifier: CA482137197

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429441G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991636G>C , CM000674.2:g.115991636G>C	GRCh38
NC_000012.11:g.116429441G>C , CM000674.1:g.116429441G>C	GRCh37
NC_000012.10:g.114913824G>C	NCBI36
NG_023366.1:g.290551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3318C>G MANE Select	ENSP00000281928.3:p.Ala1106=
ENST00000549786.2:c.2746C>G
ENST00000648379.1:n.1686C>G
ENST00000648737.1:n.3082C>G
ENST00000648825.1:n.58C>G
ENST00000648916.1:n.1329C>G
ENST00000649607.1:c.1502C>G
ENST00000650226.1:c.3318C>G	ENSP00000496981.1:p.Ala1106=
ENST00000281928.7:c.3318C>G	ENSP00000281928.3:p.Ala1106=
NM_015335.4:c.3318C>G	NP_056150.1:p.Ala1106=
XM_011538080.1:c.3318C>G	XP_011536382.1:p.Ala1106=
XM_011538081.1:c.3315C>G	XP_011536383.1:p.Ala1105=
XM_011538082.1:c.3288C>G	XP_011536384.1:p.Ala1096=
XM_011538080.2:c.3318C>G	XP_011536382.1:p.Ala1106=
XM_011538081.2:c.3315C>G	XP_011536383.1:p.Ala1105=
XM_011538082.2:c.3288C>G	XP_011536384.1:p.Ala1096=
XM_017019090.1:c.3315C>G	XP_016874579.1:p.Ala1105=
NM_015335.5:c.3318C>G MANE Select	NP_056150.1:p.Ala1106=