Canonical Allele Identifier: CA2675524414

Gene: SLC23A1

Linked Data

• gnomAD v4: 5-139379639-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379639C>G , CM000667.2:g.139379639C>G	GRCh38
NC_000005.9:g.138715328C>G , CM000667.1:g.138715328C>G	GRCh37
NC_000005.8:g.138743227C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.925+39G>C MANE Select	ENSP00000302701.4:n.925+39G>C
ENST00000348729.7:c.925+39G>C	ENSP00000302701.4:n.925+39G>C
ENST00000353963.7:c.937+39G>C	ENSP00000302851.5:n.937+39G>C
ENST00000504513.1:c.165-285G>C
ENST00000506512.1:n.536+39G>C
NM_005847.4:c.925+39G>C	NP_005838.3:n.925+39G>C
NM_152685.3:c.937+39G>C	NP_689898.2:n.937+39G>C
XM_005272148.3:c.1045+39G>C	XP_005272205.3:n.1045+39G>C
XM_005272149.3:c.1033+39G>C	XP_005272206.3:n.1033+39G>C
XM_006714741.2:c.1045+39G>C	XP_006714804.2:n.1045+39G>C
XM_011543765.1:c.1045+39G>C	XP_011542067.1:n.1045+39G>C
XM_011543766.1:c.826+39G>C	XP_011542068.1:n.826+39G>C
XM_011543767.1:c.730+39G>C	XP_011542069.1:n.730+39G>C
XM_011543768.1:c.610+39G>C	XP_011542070.1:n.610+39G>C
XM_011543769.1:c.220+39G>C	XP_011542071.1:n.220+39G>C
XM_005272149.4:c.1033+39G>C	XP_005272206.3:n.1033+39G>C
XM_011543765.2:c.1045+39G>C	XP_011542067.1:n.1045+39G>C
NM_005847.5:c.925+39G>C MANE Select	NP_005838.3:n.925+39G>C
NM_152685.4:c.937+39G>C	NP_689898.2:n.937+39G>C