Canonical Allele Identifier: CA408084604

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208916C>A (hg19) ; chr20:g.3228270C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228270C>A , CM000682.2:g.3228270C>A	GRCh38
NC_000020.10:g.3208916C>A , CM000682.1:g.3208916C>A	GRCh37
NC_000020.9:g.3156916C>A	NCBI36
NG_017072.1:g.15972G>T
NG_012093.2:g.24404C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2547G>T MANE Select	ENSP00000493503.1:p.Met849Ile
ENST00000644011.1:c.2478G>T	ENSP00000496214.1:p.Met826Ile
ENST00000644692.1:c.2346G>T	ENSP00000493824.1:p.Met782Ile
ENST00000647296.1:c.2433G>T	ENSP00000495050.1:p.Met811Ile
ENST00000380056.7:c.2595G>T	ENSP00000369396.3:p.Met865Ile
ENST00000380059.7:c.2676G>T	ENSP00000369399.3:p.Met892Ile
ENST00000474451.5:c.*695G>T	ENSP00000476859.1:n.*695G>T
ENST00000539553.6:c.2547G>T	ENSP00000441370.1:p.Met849Ile
NM_001174089.1:c.2547G>T	NP_001167560.1:p.Met849Ile
NM_001174090.1:c.2676G>T	NP_001167561.1:p.Met892Ile
NM_032034.3:c.2595G>T	NP_114423.1:p.Met865Ile
XM_005260856.3:c.2916G>T	XP_005260913.1:p.Met972Ile
XM_005260857.1:c.2490G>T	XP_005260914.1:p.Met830Ile
XM_011529383.1:c.2514G>T	XP_011527685.1:p.Met838Ile
XM_011529384.1:c.2490G>T	XP_011527686.1:p.Met830Ile
XM_011529385.1:c.2490G>T	XP_011527687.1:p.Met830Ile
XR_937167.1:n.2645G>T
NM_001363745.1:c.2433G>T	NP_001350674.1:p.Met811Ile
NR_135000.1:n.2645G>T
XM_005260856.5:c.2916G>T	XP_005260913.1:p.Met972Ile
XM_011529383.3:c.2514G>T	XP_011527685.1:p.Met838Ile
XM_017028093.1:c.2910G>T	XP_016883582.1:p.Met970Ile
XM_017028094.1:c.2490G>T	XP_016883583.1:p.Met830Ile
XM_017028096.1:c.2490G>T	XP_016883585.1:p.Met830Ile
XR_001754419.1:n.3090G>T
XR_001754420.2:n.3070G>T
NM_001174089.2:c.2547G>T MANE Select	NP_001167560.1:p.Met849Ile
NM_001363745.2:c.2433G>T	NP_001350674.1:p.Met811Ile
NM_001174090.2:c.2676G>T	NP_001167561.1:p.Met892Ile
NM_032034.4:c.2595G>T	NP_114423.1:p.Met865Ile
NM_001400277.1:c.2490G>T	NP_001387206.1:p.Met830Ile
NM_001400278.1:c.2490G>T	NP_001387207.1:p.Met830Ile
NM_001400279.1:c.2490G>T	NP_001387208.1:p.Met830Ile
NM_001400280.1:c.2562G>T	NP_001387209.1:p.Met854Ile
NR_174470.1:n.3070G>T
NR_174471.1:n.3055G>T