Canonical Allele Identifier: CA399795269

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42337877G>T (hg19) ; chr17:g.44260509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44260509G>T , CM000679.2:g.44260509G>T	GRCh38
NC_000017.10:g.42337877G>T , CM000679.1:g.42337877G>T	GRCh37
NC_000017.9:g.39693403G>T	NCBI36
NG_007498.1:g.12626C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.380C>A MANE Select	ENSP00000262418.6:p.Ser127Tyr
ENST00000262418.10:c.380C>A	ENSP00000262418.6:p.Ser127Tyr
ENST00000399246.3:c.380C>A	ENSP00000382190.3:p.Ser127Tyr
ENST00000471005.5:n.314C>A
ENST00000497360.5:n.519C>A
NM_000342.3:c.380C>A	NP_000333.1:p.Ser127Tyr
XM_005257593.3:c.185C>A	XP_005257650.1:p.Ser62Tyr
XM_011525129.1:c.380C>A	XP_011523431.1:p.Ser127Tyr
XM_011525130.1:c.380C>A	XP_011523432.1:p.Ser127Tyr
XM_011525131.1:c.380C>A	XP_011523433.1:p.Ser127Tyr
XM_005257593.5:c.185C>A	XP_005257650.1:p.Ser62Tyr
XM_011525129.2:c.380C>A	XP_011523431.1:p.Ser127Tyr
NM_000342.4:c.380C>A MANE Select	NP_000333.1:p.Ser127Tyr