Canonical Allele Identifier: CA2261309568
Community Standard Title: NM_000342.4(SLC4A1):c.1462G= (p.Val488=)
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44257514C= , CM000679.2:g.44257514C= GRCh38
NC_000017.10:g.42334882C= , CM000679.1:g.42334882C= GRCh37
NC_000017.9:g.39690408C= NCBI36
NG_007498.1:g.15621G=

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.1462G= MANE Select NP_000333.1:p.Val488=
ENST00000262418.12:c.1462G= MANE Select ENSP00000262418.6:p.Val488=
NM_000342.3:c.1462G= NP_000333.1:p.Val488=
ENST00000262418.10:c.1462G= ENSP00000262418.6:p.Val488=
ENST00000399246.3:c.777+1748G= ENSP00000382190.3:n.777+1748G=
ENST00000497360.5:n.1601G=
XM_005257593.3:c.1267G= XP_005257650.1:p.Val423=
XM_005257593.5:c.1267G= XP_005257650.1:p.Val423=
XM_011525129.1:c.1462G= XP_011523431.1:p.Val488=
XM_011525129.2:c.1462G= XP_011523431.1:p.Val488=
XM_011525130.1:c.1462G= XP_011523432.1:p.Val488=
XM_011525131.1:c.1462G= XP_011523433.1:p.Val488=