Canonical Allele Identifier: CA361139819

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715469C>G (hg19) ; chr5:g.139379780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379780C>G , CM000667.2:g.139379780C>G	GRCh38
NC_000005.9:g.138715469C>G , CM000667.1:g.138715469C>G	GRCh37
NC_000005.8:g.138743368C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.823G>C MANE Select	ENSP00000302701.4:p.Asp275His
ENST00000348729.7:c.823G>C	ENSP00000302701.4:p.Asp275His
ENST00000353963.7:c.835G>C	ENSP00000302851.5:p.Asp279His
ENST00000504513.1:c.164+176G>C
ENST00000506512.1:n.434G>C
NM_005847.4:c.823G>C	NP_005838.3:p.Asp275His
NM_152685.3:c.835G>C	NP_689898.2:p.Asp279His
XM_005272148.3:c.943G>C	XP_005272205.3:p.Asp315His
XM_005272149.3:c.931G>C	XP_005272206.3:p.Asp311His
XM_006714741.2:c.943G>C	XP_006714804.2:p.Asp315His
XM_011543765.1:c.943G>C	XP_011542067.1:p.Asp315His
XM_011543766.1:c.724G>C	XP_011542068.1:p.Asp242His
XM_011543767.1:c.628G>C	XP_011542069.1:p.Asp210His
XM_011543768.1:c.508G>C	XP_011542070.1:p.Asp170His
XM_011543769.1:c.118G>C	XP_011542071.1:p.Asp40His
XM_005272149.4:c.931G>C	XP_005272206.3:p.Asp311His
XM_011543765.2:c.943G>C	XP_011542067.1:p.Asp315His
NM_005847.5:c.823G>C MANE Select	NP_005838.3:p.Asp275His
NM_152685.4:c.835G>C	NP_689898.2:p.Asp279His