Canonical Allele Identifier: CA128242686

Gene: SLC23A1

Linked Data

• dbSNP Id: rs997433082
• gnomAD v2: 5-138715613-G-A
• gnomAD v4: 5-139379924-G-A
• MyVariant Identifiers: chr5:g.138715613G>A (hg19) ; chr5:g.139379924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379924G>A , CM000667.2:g.139379924G>A	GRCh38
NC_000005.9:g.138715613G>A , CM000667.1:g.138715613G>A	GRCh37
NC_000005.8:g.138743512G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.768+32C>T MANE Select	ENSP00000302701.4:n.768+32C>T
ENST00000348729.7:c.768+32C>T	ENSP00000302701.4:n.768+32C>T
ENST00000353963.7:c.780+32C>T	ENSP00000302851.5:n.780+32C>T
ENST00000504513.1:c.164+32C>T
ENST00000506512.1:n.290C>T
NM_005847.4:c.768+32C>T	NP_005838.3:n.768+32C>T
NM_152685.3:c.780+32C>T	NP_689898.2:n.780+32C>T
XM_005272148.3:c.888+32C>T	XP_005272205.3:n.888+32C>T
XM_005272149.3:c.876+32C>T	XP_005272206.3:n.876+32C>T
XM_006714741.2:c.888+32C>T	XP_006714804.2:n.888+32C>T
XM_011543765.1:c.888+32C>T	XP_011542067.1:n.888+32C>T
XM_011543766.1:c.669+32C>T	XP_011542068.1:n.669+32C>T
XM_011543767.1:c.574-90C>T	XP_011542069.1:n.574-90C>T
XM_011543768.1:c.453+32C>T	XP_011542070.1:n.453+32C>T
XM_011543769.1:c.64-90C>T	XP_011542071.1:n.64-90C>T
XM_005272149.4:c.876+32C>T	XP_005272206.3:n.876+32C>T
XM_011543765.2:c.888+32C>T	XP_011542067.1:n.888+32C>T
NM_005847.5:c.768+32C>T MANE Select	NP_005838.3:n.768+32C>T
NM_152685.4:c.780+32C>T	NP_689898.2:n.780+32C>T