Canonical Allele Identifier: CA481949474

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434827G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997022G>C , CM000674.2:g.115997022G>C	GRCh38
NC_000012.11:g.116434827G>C , CM000674.1:g.116434827G>C	GRCh37
NC_000012.10:g.114919210G>C	NCBI36
NG_023366.1:g.285165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2778C>G MANE Select	ENSP00000281928.3:p.Pro926=
ENST00000548743.2:c.2748C>G	ENSP00000448553.2:p.Pro916=
ENST00000549786.2:c.2206C>G
ENST00000647927.1:n.3151C>G
ENST00000648173.1:n.1573C>G
ENST00000648379.1:n.1146C>G
ENST00000648737.1:n.2542C>G
ENST00000648916.1:n.789C>G
ENST00000649607.1:c.962C>G
ENST00000650226.1:c.2778C>G	ENSP00000496981.1:p.Pro926=
ENST00000281928.7:c.2778C>G	ENSP00000281928.3:p.Pro926=
NM_015335.4:c.2778C>G	NP_056150.1:p.Pro926=
XM_011538080.1:c.2778C>G	XP_011536382.1:p.Pro926=
XM_011538081.1:c.2775C>G	XP_011536383.1:p.Pro925=
XM_011538082.1:c.2748C>G	XP_011536384.1:p.Pro916=
XM_011538080.2:c.2778C>G	XP_011536382.1:p.Pro926=
XM_011538081.2:c.2775C>G	XP_011536383.1:p.Pro925=
XM_011538082.2:c.2748C>G	XP_011536384.1:p.Pro916=
XM_017019090.1:c.2775C>G	XP_016874579.1:p.Pro925=
NM_015335.5:c.2778C>G MANE Select	NP_056150.1:p.Pro926=