Canonical Allele Identifier: CA500288619

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42337870A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260502A>T , CM000679.2:g.44260502A>T	GRCh38
NC_000017.10:g.42337870A>T , CM000679.1:g.42337870A>T	GRCh37
NC_000017.9:g.39693396A>T	NCBI36
NG_007498.1:g.12633T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.387T>A MANE Select	ENSP00000262418.6:p.Ala129=
ENST00000262418.10:c.387T>A	ENSP00000262418.6:p.Ala129=
ENST00000399246.3:c.387T>A	ENSP00000382190.3:p.Ala129=
ENST00000471005.5:n.321T>A
ENST00000497360.5:n.526T>A
NM_000342.3:c.387T>A	NP_000333.1:p.Ala129=
XM_005257593.3:c.192T>A	XP_005257650.1:p.Ala64=
XM_011525129.1:c.387T>A	XP_011523431.1:p.Ala129=
XM_011525130.1:c.387T>A	XP_011523432.1:p.Ala129=
XM_011525131.1:c.387T>A	XP_011523433.1:p.Ala129=
XM_005257593.5:c.192T>A	XP_005257650.1:p.Ala64=
XM_011525129.2:c.387T>A	XP_011523431.1:p.Ala129=
NM_000342.4:c.387T>A MANE Select	NP_000333.1:p.Ala129=