Canonical Allele Identifier: CA386890656

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434914C>T (hg19) ; chr12:g.115997109C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997109C>T , CM000674.2:g.115997109C>T	GRCh38
NC_000012.11:g.116434914C>T , CM000674.1:g.116434914C>T	GRCh37
NC_000012.10:g.114919297C>T	NCBI36
NG_023366.1:g.285078G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2691G>A MANE Select	ENSP00000281928.3:p.Met897Ile
ENST00000548743.2:c.2661G>A	ENSP00000448553.2:p.Met887Ile
ENST00000549786.2:c.2119G>A
ENST00000647927.1:n.3064G>A
ENST00000648173.1:n.1486G>A
ENST00000648379.1:n.1059G>A
ENST00000648737.1:n.2455G>A
ENST00000648916.1:n.702G>A
ENST00000649607.1:c.875G>A
ENST00000650226.1:c.2691G>A	ENSP00000496981.1:p.Met897Ile
ENST00000281928.7:c.2691G>A	ENSP00000281928.3:p.Met897Ile
NM_015335.4:c.2691G>A	NP_056150.1:p.Met897Ile
XM_011538080.1:c.2691G>A	XP_011536382.1:p.Met897Ile
XM_011538081.1:c.2688G>A	XP_011536383.1:p.Met896Ile
XM_011538082.1:c.2661G>A	XP_011536384.1:p.Met887Ile
XM_011538080.2:c.2691G>A	XP_011536382.1:p.Met897Ile
XM_011538081.2:c.2688G>A	XP_011536383.1:p.Met896Ile
XM_011538082.2:c.2661G>A	XP_011536384.1:p.Met887Ile
XM_017019090.1:c.2688G>A	XP_016874579.1:p.Met896Ile
NM_015335.5:c.2691G>A MANE Select	NP_056150.1:p.Met897Ile