Canonical Allele Identifier: CA349632022

Gene: SLC25A12

Linked Data

• MyVariant Identifiers: chr2:g.172712362T>G (hg19) ; chr2:g.171855852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171855852T>G , CM000664.2:g.171855852T>G	GRCh38
NC_000002.11:g.172712362T>G , CM000664.1:g.172712362T>G	GRCh37
NC_000002.10:g.172420608T>G	NCBI36
NG_011781.1:g.43452A>C
NG_011781.2:g.43452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422440.7:c.307A>C MANE Select	ENSP00000388658.2:p.Asn103His
ENST00000263812.8:c.210-11344A>C	ENSP00000263812.4:n.210-11344A>C
ENST00000422440.6:c.307A>C	ENSP00000388658.2:p.Asn103His
ENST00000426896.5:c.307A>C	ENSP00000413968.1:p.Asn103His
ENST00000472748.5:n.472A>C
ENST00000475360.6:c.295A>C	ENSP00000437845.1:p.Asn99His
ENST00000484227.5:n.505A>C
NM_003705.4:c.307A>C	NP_003696.2:p.Asn103His
NR_047549.1:n.302-11344A>C
XM_005246923.3:c.256A>C	XP_005246980.1:p.Asn86His
XM_011512069.1:c.307A>C	XP_011510371.1:p.Asn103His
XM_011512070.1:c.-71A>C	XP_011510372.1:n.-71A>C
XM_011512070.3:c.-71A>C	XP_011510372.1:n.-71A>C
NM_003705.5:c.307A>C MANE Select	NP_003696.2:p.Asn103His
NR_047549.2:n.240-11344A>C