Canonical Allele Identifier: CA386888010

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429400A>G (hg19) ; chr12:g.115991595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991595A>G , CM000674.2:g.115991595A>G	GRCh38
NC_000012.11:g.116429400A>G , CM000674.1:g.116429400A>G	GRCh37
NC_000012.10:g.114913783A>G	NCBI36
NG_023366.1:g.290592T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.3359T>C MANE Select	ENSP00000281928.3:p.Met1120Thr
ENST00000549786.2:c.2787T>C
ENST00000648379.1:n.1727T>C
ENST00000648737.1:n.3123T>C
ENST00000648825.1:n.99T>C
ENST00000648916.1:n.1370T>C
ENST00000649607.1:c.1543T>C
ENST00000650226.1:c.3359T>C	ENSP00000496981.1:p.Met1120Thr
ENST00000281928.7:c.3359T>C	ENSP00000281928.3:p.Met1120Thr
NM_015335.4:c.3359T>C	NP_056150.1:p.Met1120Thr
XM_011538080.1:c.3359T>C	XP_011536382.1:p.Met1120Thr
XM_011538081.1:c.3356T>C	XP_011536383.1:p.Met1119Thr
XM_011538082.1:c.3329T>C	XP_011536384.1:p.Met1110Thr
XM_011538080.2:c.3359T>C	XP_011536382.1:p.Met1120Thr
XM_011538081.2:c.3356T>C	XP_011536383.1:p.Met1119Thr
XM_011538082.2:c.3329T>C	XP_011536384.1:p.Met1110Thr
XM_017019090.1:c.3356T>C	XP_016874579.1:p.Met1119Thr
NM_015335.5:c.3359T>C MANE Select	NP_056150.1:p.Met1120Thr