Canonical Allele Identifier: CA2261307669
Community Standard Title: NM_000342.4(SLC4A1):c.2201A= (p.His734=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44253228T= , CM000679.2:g.44253228T= GRCh38
NC_000017.10:g.42330596T= , CM000679.1:g.42330596T= GRCh37
NC_000017.9:g.39686122T= NCBI36
NG_007498.1:g.19907A=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.2201A= MANE Select NP_000333.1:p.His734=
ENST00000262418.12:c.2201A= MANE Select ENSP00000262418.6:p.His734=
NM_000342.3:c.2201A= NP_000333.1:p.His734=
ENST00000262418.10:c.2201A= ENSP00000262418.6:p.His734=
ENST00000399246.3:c.1103A= ENSP00000382190.3:p.His368=
XM_005257593.3:c.2006A= XP_005257650.1:p.His669=
XM_005257593.5:c.2006A= XP_005257650.1:p.His669=
XM_011525129.1:c.2111A= XP_011523431.1:p.His704=
XM_011525129.2:c.2111A= XP_011523431.1:p.His704=
XM_011525130.1:c.2201A= XP_011523432.1:p.His734=