Canonical Allele Identifier: CA349632360

Gene: SLC25A12

Linked Data

• dbSNP Id: rs1685034813
• gnomAD v4: 2-171855889-C-T
• MyVariant Identifiers: chr2:g.172712399C>T (hg19) ; chr2:g.171855889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855889C>T , CM000664.2:g.171855889C>T	GRCh38
NC_000002.11:g.172712399C>T , CM000664.1:g.172712399C>T	GRCh37
NC_000002.10:g.172420645C>T	NCBI36
NG_011781.1:g.43415G>A
NG_011781.2:g.43415G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000422440.7:c.270G>A MANE Select	ENSP00000388658.2:p.Met90Ile
ENST00000263812.8:c.210-11381G>A	ENSP00000263812.4:n.210-11381G>A
ENST00000422440.6:c.270G>A	ENSP00000388658.2:p.Met90Ile
ENST00000426896.5:c.270G>A	ENSP00000413968.1:p.Met90Ile
ENST00000472748.5:n.435G>A
ENST00000475360.6:c.258G>A	ENSP00000437845.1:p.Met86Ile
ENST00000484227.5:n.468G>A
NM_003705.4:c.270G>A	NP_003696.2:p.Met90Ile
NR_047549.1:n.302-11381G>A
XM_005246923.3:c.219G>A	XP_005246980.1:p.Met73Ile
XM_011512069.1:c.270G>A	XP_011510371.1:p.Met90Ile
XM_011512070.1:c.-108G>A	XP_011510372.1:n.-108G>A
XM_011512070.3:c.-108G>A	XP_011510372.1:n.-108G>A
NM_003705.5:c.270G>A MANE Select	NP_003696.2:p.Met90Ile
NR_047549.2:n.240-11381G>A