Canonical Allele Identifier: CA2580586418

Gene: SLC25A12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171787719T>G , CM000664.2:g.171787719T>G	GRCh38
NC_000002.11:g.172644229T>G , CM000664.1:g.172644229T>G	GRCh37
NC_000002.10:g.172352475T>G	NCBI36
NG_011781.1:g.111585A>C
NG_011781.2:g.111585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.1745-58A>C MANE Select	ENSP00000388658.2:n.1745-58A>C
ENST00000263812.8:c.*1365-58A>C	ENSP00000263812.4:n.*1365-58A>C
ENST00000422440.6:c.1745-58A>C	ENSP00000388658.2:n.1745-58A>C
ENST00000472070.1:n.1155-58A>C
NM_003705.4:c.1745-58A>C	NP_003696.2:n.1745-58A>C
NR_047549.1:n.1721-58A>C
XM_005246923.3:c.1694-58A>C	XP_005246980.1:n.1694-58A>C
XM_011512069.1:c.1744+70A>C	XP_011510371.1:n.1744+70A>C
XM_011512070.1:c.1472-58A>C	XP_011510372.1:n.1472-58A>C
XR_923577.1:n.2692-5805T>G
XM_011512070.3:c.1472-58A>C	XP_011510372.1:n.1472-58A>C
NM_003705.5:c.1745-58A>C MANE Select	NP_003696.2:n.1745-58A>C
NR_047549.2:n.1659-58A>C