Canonical Allele Identifier: CA2842674399

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379901C>A , CM000667.2:g.139379901C>A	GRCh38
NC_000005.9:g.138715590C>A , CM000667.1:g.138715590C>A	GRCh37
NC_000005.8:g.138743489C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.768+55G>T MANE Select	ENSP00000302701.4:n.768+55G>T
ENST00000348729.7:c.768+55G>T	ENSP00000302701.4:n.768+55G>T
ENST00000353963.7:c.780+55G>T	ENSP00000302851.5:n.780+55G>T
ENST00000504513.1:c.164+55G>T
ENST00000506512.1:n.313G>T
NM_005847.4:c.768+55G>T	NP_005838.3:n.768+55G>T
NM_152685.3:c.780+55G>T	NP_689898.2:n.780+55G>T
XM_005272148.3:c.888+55G>T	XP_005272205.3:n.888+55G>T
XM_005272149.3:c.876+55G>T	XP_005272206.3:n.876+55G>T
XM_006714741.2:c.888+55G>T	XP_006714804.2:n.888+55G>T
XM_011543765.1:c.888+55G>T	XP_011542067.1:n.888+55G>T
XM_011543766.1:c.669+55G>T	XP_011542068.1:n.669+55G>T
XM_011543767.1:c.574-67G>T	XP_011542069.1:n.574-67G>T
XM_011543768.1:c.453+55G>T	XP_011542070.1:n.453+55G>T
XM_011543769.1:c.64-67G>T	XP_011542071.1:n.64-67G>T
XM_005272149.4:c.876+55G>T	XP_005272206.3:n.876+55G>T
XM_011543765.2:c.888+55G>T	XP_011542067.1:n.888+55G>T
NM_005847.5:c.768+55G>T MANE Select	NP_005838.3:n.768+55G>T
NM_152685.4:c.780+55G>T	NP_689898.2:n.780+55G>T