Canonical Allele Identifier: CA557394842

Gene: SLC25A4

Linked Data

• dbSNP Id: rs1734406121
• gnomAD v2: 4-186065857-C-CTTT
• gnomAD v3: 4-185144703-C-CTTT
• gnomAD v4: 4-185144703-C-CTTT
• MyVariant Identifiers: chr4:g.186065857_186065858insTTT (hg19) ; chr4:g.185144703_185144704insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185144704_185144705insTTT , CM000666.2:g.185144704_185144705insTTT	GRCh38
NC_000004.11:g.186065858_186065859insTTT , CM000666.1:g.186065858_186065859insTTT	GRCh37
NC_000004.10:g.186302852_186302853insTTT	NCBI36
NG_013001.1:g.6442_6443insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281456.11:c.112-60_112-59insTTT MANE Select	ENSP00000281456.5:n.112-60_112-59insTTT
ENST00000281456.10:c.112-60_112-59insTTT	ENSP00000281456.5:n.112-60_112-59insTTT
ENST00000491736.1:c.112-60_112-59insTTT	ENSP00000476711.1:n.112-60_112-59insTTT
NM_001151.3:c.112-60_112-59insTTT	NP_001142.2:n.112-60_112-59insTTT
NM_001151.4:c.112-60_112-59insTTT MANE Select	NP_001142.2:n.112-60_112-59insTTT