Canonical Allele Identifier: CA1307543660

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1685031381
• gnomAD v4: 2-171855660-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855660C>A , CM000664.2:g.171855660C>A	GRCh38
NC_000002.11:g.172712170C>A , CM000664.1:g.172712170C>A	GRCh37
NC_000002.10:g.172420416C>A	NCBI36
NG_011781.1:g.43644G>T
NG_011781.2:g.43644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.325+174G>T MANE Select	ENSP00000388658.2:n.325+174G>T
ENST00000263812.8:c.210-11152G>T	ENSP00000263812.4:n.210-11152G>T
ENST00000422440.6:c.325+174G>T	ENSP00000388658.2:n.325+174G>T
ENST00000426896.5:c.325+174G>T	ENSP00000413968.1:n.325+174G>T
ENST00000472748.5:n.490+174G>T
ENST00000475360.6:c.313+174G>T	ENSP00000437845.1:n.313+174G>T
NM_003705.4:c.325+174G>T	NP_003696.2:n.325+174G>T
NR_047549.1:n.302-11152G>T
XM_005246923.3:c.274+174G>T	XP_005246980.1:n.274+174G>T
XM_011512069.1:c.325+174G>T	XP_011510371.1:n.325+174G>T
XM_011512070.1:c.-53+174G>T	XP_011510372.1:n.-53+174G>T
XM_011512070.3:c.-53+174G>T	XP_011510372.1:n.-53+174G>T
NM_003705.5:c.325+174G>T MANE Select	NP_003696.2:n.325+174G>T
NR_047549.2:n.240-11152G>T