Canonical Allele Identifier: CA500285324

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331883G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254515G>A , CM000679.2:g.44254515G>A	GRCh38
NC_000017.10:g.42331883G>A , CM000679.1:g.42331883G>A	GRCh37
NC_000017.9:g.39687409G>A	NCBI36
NG_007498.1:g.18620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.2038C>T MANE Select	ENSP00000262418.6:p.Leu680=
ENST00000262418.10:c.2038C>T	ENSP00000262418.6:p.Leu680=
ENST00000399246.3:c.940C>T	ENSP00000382190.3:p.Leu314=
NM_000342.3:c.2038C>T	NP_000333.1:p.Leu680=
XM_005257593.3:c.1843C>T	XP_005257650.1:p.Leu615=
XM_011525129.1:c.1948C>T	XP_011523431.1:p.Leu650=
XM_011525130.1:c.2038C>T	XP_011523432.1:p.Leu680=
XM_011525131.1:c.2038C>T	XP_011523433.1:p.Leu680=
XM_005257593.5:c.1843C>T	XP_005257650.1:p.Leu615=
XM_011525129.2:c.1948C>T	XP_011523431.1:p.Leu650=
NM_000342.4:c.2038C>T MANE Select	NP_000333.1:p.Leu680=