Canonical Allele Identifier: CA7546907

Gene: SLC12A1

Linked Data

• ClinVar Variation Id: 2606264
• ClinVar RCV Id: RCV003369129
• dbSNP Id: rs77567995
• ExAC: 15:48521476 T / C
• gnomAD v2: 15-48521476-T-C
• gnomAD v4: 15-48229279-T-C
• MyVariant Identifiers: chr15:g.48521476T>C (hg19) ; chr15:g.48229279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229279T>C , CM000677.2:g.48229279T>C	GRCh38
NC_000015.9:g.48521476T>C , CM000677.1:g.48521476T>C	GRCh37
NC_000015.8:g.46308768T>C	NCBI36
NG_021301.1:g.27979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.815T>C	ENSP00000508901.1:p.Val272Ala
ENST00000380993.8:c.815T>C MANE Select	ENSP00000370381.3:p.Val272Ala
ENST00000646012.1:c.953T>C	ENSP00000495813.1:p.Val318Ala
ENST00000647232.1:c.815T>C	ENSP00000493875.1:p.Val272Ala
ENST00000647546.1:c.815T>C	ENSP00000495332.1:p.Val272Ala
ENST00000330289.10:c.815T>C	ENSP00000331550.6:p.Val272Ala
ENST00000380993.7:c.815T>C	ENSP00000370381.3:p.Val272Ala
ENST00000396577.7:c.815T>C	ENSP00000379822.3:p.Val272Ala
ENST00000558252.5:n.4938T>C
ENST00000558405.5:c.815T>C	ENSP00000453409.1:p.Val272Ala
ENST00000559641.5:c.254T>C	ENSP00000453230.1:p.Val85Ala
ENST00000559723.2:n.188T>C
ENST00000560692.5:n.4954T>C
ENST00000561127.5:c.254T>C	ENSP00000453602.2:p.Val85Ala
NM_000338.2:c.815T>C	NP_000329.2:p.Val272Ala
NM_001184832.1:c.815T>C	NP_001171761.1:p.Val272Ala
XM_005254605.1:c.911T>C	XP_005254662.1:p.Val304Ala
XM_005254606.1:c.815T>C	XP_005254663.1:p.Val272Ala
XM_006720656.1:c.911T>C	XP_006720719.1:p.Val304Ala
XR_931896.1:n.1127T>C
XR_932203.1:n.229+677A>G
XR_932204.1:n.222+677A>G
XM_005254606.2:c.815T>C	XP_005254663.1:p.Val272Ala
XR_001751524.2:n.230+677A>G
XR_001751525.1:n.230+677A>G
XR_002957762.1:n.230+677A>G
XR_932204.3:n.224+677A>G
NM_000338.3:c.815T>C MANE Select	NP_000329.2:p.Val272Ala
NM_001184832.2:c.815T>C	NP_001171761.1:p.Val272Ala
NM_001384136.1:c.815T>C	NP_001371065.1:p.Val272Ala