Canonical Allele Identifier: CA386883861

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116422177T>G (hg19) ; chr12:g.115984372T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984372T>G , CM000674.2:g.115984372T>G	GRCh38
NC_000012.11:g.116422177T>G , CM000674.1:g.116422177T>G	GRCh37
NC_000012.10:g.114906560T>G	NCBI36
NG_023366.1:g.297815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4339A>C MANE Select	ENSP00000281928.3:p.Met1447Leu
ENST00000549786.2:c.3767A>C
ENST00000648379.1:n.2707A>C
ENST00000648737.1:n.4103A>C
ENST00000648825.1:n.1079A>C
ENST00000648916.1:n.2350A>C
ENST00000649146.1:n.1069A>C
ENST00000649607.1:c.2523A>C
ENST00000649775.1:c.836A>C
ENST00000650091.1:n.2315A>C
ENST00000650226.1:c.4339A>C	ENSP00000496981.1:p.Met1447Leu
ENST00000281928.7:c.4339A>C	ENSP00000281928.3:p.Met1447Leu
NM_015335.4:c.4339A>C	NP_056150.1:p.Met1447Leu
XM_011538080.1:c.4339A>C	XP_011536382.1:p.Met1447Leu
XM_011538081.1:c.4336A>C	XP_011536383.1:p.Met1446Leu
XM_011538082.1:c.4309A>C	XP_011536384.1:p.Met1437Leu
XM_011538080.2:c.4339A>C	XP_011536382.1:p.Met1447Leu
XM_011538081.2:c.4336A>C	XP_011536383.1:p.Met1446Leu
XM_011538082.2:c.4309A>C	XP_011536384.1:p.Met1437Leu
XM_017019090.1:c.4336A>C	XP_016874579.1:p.Met1446Leu
NM_015335.5:c.4339A>C MANE Select	NP_056150.1:p.Met1447Leu