Canonical Allele Identifier: CA11090252

Gene: SLC25A12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171824168A>C , CM000664.2:g.171824168A>C	GRCh38
NC_000002.11:g.172680678A>C , CM000664.1:g.172680678A>C	GRCh37
NC_000002.10:g.172388924A>C	NCBI36
NG_011781.1:g.75136T>G
NG_011781.2:g.75136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.930+2630T>G MANE Select	ENSP00000388658.2:n.930+2630T>G
ENST00000263812.8:c.*550+2630T>G	ENSP00000263812.4:n.*550+2630T>G
ENST00000422440.6:c.930+2630T>G	ENSP00000388658.2:n.930+2630T>G
ENST00000485880.1:n.458+2630T>G
NM_003705.4:c.930+2630T>G	NP_003696.2:n.930+2630T>G
NR_047549.1:n.906+2630T>G
XM_005246923.3:c.879+2630T>G	XP_005246980.1:n.879+2630T>G
XM_011512069.1:c.930+2630T>G	XP_011510371.1:n.930+2630T>G
XM_011512070.1:c.657+2630T>G	XP_011510372.1:n.657+2630T>G
XM_011512070.3:c.657+2630T>G	XP_011510372.1:n.657+2630T>G
NM_003705.5:c.930+2630T>G MANE Select	NP_003696.2:n.930+2630T>G
NR_047549.2:n.844+2630T>G