Canonical Allele Identifier: CA2261308593
Community Standard Title: NM_000342.4(SLC4A1):c.1825G= (p.Gly609=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44255272C= , CM000679.2:g.44255272C= GRCh38
NC_000017.10:g.42332640C= , CM000679.1:g.42332640C= GRCh37
NC_000017.9:g.39688166C= NCBI36
NG_007498.1:g.17863G=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.1825G= MANE Select NP_000333.1:p.Gly609=
ENST00000262418.12:c.1825G= MANE Select ENSP00000262418.6:p.Gly609=
NM_000342.3:c.1825G= NP_000333.1:p.Gly609=
ENST00000262418.10:c.1825G= ENSP00000262418.6:p.Gly609=
ENST00000399246.3:c.778-51G= ENSP00000382190.3:n.778-51G=
XM_005257593.3:c.1630G= XP_005257650.1:p.Gly544=
XM_005257593.5:c.1630G= XP_005257650.1:p.Gly544=
XM_011525129.1:c.1800+401G= XP_011523431.1:n.1800+401G=
XM_011525129.2:c.1800+401G= XP_011523431.1:n.1800+401G=
XM_011525130.1:c.1825G= XP_011523432.1:p.Gly609=
XM_011525131.1:c.1825G= XP_011523433.1:p.Gly609=