Canonical Allele Identifier: CA14379319
Community Standard Title: NM_000342.4(SLC4A1):c.169-270C>T
Gene: SLC4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44261085G>A , CM000679.2:g.44261085G>A GRCh38
NC_000017.10:g.42338453G>A , CM000679.1:g.42338453G>A GRCh37
NC_000017.9:g.39693979G>A NCBI36
NG_007498.1:g.12050C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000342.4:c.169-270C>T MANE Select NP_000333.1:n.169-270C>T
ENST00000262418.12:c.169-270C>T MANE Select ENSP00000262418.6:n.169-270C>T
NM_000342.3:c.169-270C>T NP_000333.1:n.169-270C>T
ENST00000262418.10:c.169-270C>T ENSP00000262418.6:n.169-270C>T
ENST00000399246.3:c.169-270C>T ENSP00000382190.3:n.169-270C>T
ENST00000471005.5:n.103-270C>T
ENST00000497360.5:n.308-270C>T
ENST00000498270.1:n.450-270C>T
XM_005257593.3:c.-27-270C>T XP_005257650.1:n.-27-270C>T
XM_005257593.5:c.-27-270C>T XP_005257650.1:n.-27-270C>T
XM_011525129.1:c.169-270C>T XP_011523431.1:n.169-270C>T
XM_011525129.2:c.169-270C>T XP_011523431.1:n.169-270C>T
XM_011525130.1:c.169-270C>T XP_011523432.1:n.169-270C>T
XM_011525131.1:c.169-270C>T XP_011523433.1:n.169-270C>T