Canonical Allele Identifier: CA386890650

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116434912A>C (hg19) ; chr12:g.115997107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997107A>C , CM000674.2:g.115997107A>C	GRCh38
NC_000012.11:g.116434912A>C , CM000674.1:g.116434912A>C	GRCh37
NC_000012.10:g.114919295A>C	NCBI36
NG_023366.1:g.285080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2693T>G MANE Select	ENSP00000281928.3:p.Met898Arg
ENST00000548743.2:c.2663T>G	ENSP00000448553.2:p.Met888Arg
ENST00000549786.2:c.2121T>G
ENST00000647927.1:n.3066T>G
ENST00000648173.1:n.1488T>G
ENST00000648379.1:n.1061T>G
ENST00000648737.1:n.2457T>G
ENST00000648916.1:n.704T>G
ENST00000649607.1:c.877T>G
ENST00000650226.1:c.2693T>G	ENSP00000496981.1:p.Met898Arg
ENST00000281928.7:c.2693T>G	ENSP00000281928.3:p.Met898Arg
NM_015335.4:c.2693T>G	NP_056150.1:p.Met898Arg
XM_011538080.1:c.2693T>G	XP_011536382.1:p.Met898Arg
XM_011538081.1:c.2690T>G	XP_011536383.1:p.Met897Arg
XM_011538082.1:c.2663T>G	XP_011536384.1:p.Met888Arg
XM_011538080.2:c.2693T>G	XP_011536382.1:p.Met898Arg
XM_011538081.2:c.2690T>G	XP_011536383.1:p.Met897Arg
XM_011538082.2:c.2663T>G	XP_011536384.1:p.Met888Arg
XM_017019090.1:c.2690T>G	XP_016874579.1:p.Met897Arg
NM_015335.5:c.2693T>G MANE Select	NP_056150.1:p.Met898Arg