Canonical Allele Identifier: CA10627855

Gene: SMIM19 SLC20A2

Linked Data

• ClinVar Variation Id: 363101
• ClinVar RCV Id: RCV000327466
• dbSNP Id: rs969584653
• gnomAD v3: 8-42541992-G-A
• gnomAD v4: 8-42541992-G-A
• MyVariant Identifiers: chr8:g.42397135G>A (hg19) ; chr8:g.42541992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42541992G>A , CM000670.2:g.42541992G>A	GRCh38
NC_000008.10:g.42397135G>A , CM000670.1:g.42397135G>A	GRCh37
NC_000008.9:g.42516292G>A	NCBI36
NG_032161.1:g.5222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417410.7:c.-386G>A (SMIM19) MANE Select	ENSP00000405694.2:n.-386G>A
ENST00000414154.6:c.-5+287G>A (SMIM19)	ENSP00000408997.2:n.-5+287G>A
ENST00000416469.6:c.-168G>A (SMIM19)	ENSP00000390750.2:n.-168G>A
ENST00000417410.6:c.-386G>A (SMIM19)	ENSP00000405694.2:n.-386G>A
ENST00000438528.7:c.-5+793G>A (SMIM19)	ENSP00000391549.2:n.-5+793G>A
ENST00000498447.5:c.-5+287G>A (SMIM19)	ENSP00000430708.1:n.-5+287G>A
ENST00000518574.1:c.-17+287G>A (SMIM19)	ENSP00000430387.1:n.-17+287G>A
ENST00000529505.1:n.331G>A (SMIM19)
NM_001135674.1:c.-386G>A (SMIM19)	NP_001129146.1:n.-386G>A
NM_001135675.1:c.-168G>A (SMIM19)	NP_001129147.1:n.-168G>A
NM_001135676.1:c.-5+793G>A (SMIM19)	NP_001129148.1:n.-5+793G>A
NM_006749.4:c.-436C>T (SLC20A2)	NP_006740.1:n.-436C>T
NM_138436.3:c.-5+287G>A (SMIM19)	NP_612445.2:n.-5+287G>A
XM_005273398.3:c.-457G>A (SMIM19)	XP_005273455.1:n.-457G>A
NM_001363186.1:c.-457G>A (SMIM19)	NP_001350115.1:n.-457G>A
XM_005273398.4:c.-457G>A (SMIM19)	XP_005273455.1:n.-457G>A
XM_017013748.1:c.-397C>T (SLC20A2)	XP_016869237.1:n.-397C>T
XM_017013752.2:c.-943C>T (SLC20A2)	XP_016869241.1:n.-943C>T
NM_001135674.2:c.-386G>A (SMIM19) MANE Select	NP_001129146.1:n.-386G>A
NM_001135675.2:c.-168G>A (SMIM19)	NP_001129147.1:n.-168G>A
NM_001135676.2:c.-5+793G>A (SMIM19)	NP_001129148.1:n.-5+793G>A
NM_001363186.2:c.-457G>A (SMIM19)	NP_001350115.1:n.-457G>A
NM_138436.4:c.-5+287G>A (SMIM19)	NP_612445.2:n.-5+287G>A