Canonical Allele Identifier: CA408084624

Gene: SLC4A11

Linked Data

• MyVariant Identifiers: chr20:g.3208918T>G (hg19) ; chr20:g.3228272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228272T>G , CM000682.2:g.3228272T>G	GRCh38
NC_000020.10:g.3208918T>G , CM000682.1:g.3208918T>G	GRCh37
NC_000020.9:g.3156918T>G	NCBI36
NG_017072.1:g.15970A>C
NG_012093.2:g.24406T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2545A>C MANE Select	ENSP00000493503.1:p.Met849Leu
ENST00000644011.1:c.2476A>C	ENSP00000496214.1:p.Met826Leu
ENST00000644692.1:c.2344A>C	ENSP00000493824.1:p.Met782Leu
ENST00000647296.1:c.2431A>C	ENSP00000495050.1:p.Met811Leu
ENST00000380056.7:c.2593A>C	ENSP00000369396.3:p.Met865Leu
ENST00000380059.7:c.2674A>C	ENSP00000369399.3:p.Met892Leu
ENST00000474451.5:c.*693A>C	ENSP00000476859.1:n.*693A>C
ENST00000539553.6:c.2545A>C	ENSP00000441370.1:p.Met849Leu
NM_001174089.1:c.2545A>C	NP_001167560.1:p.Met849Leu
NM_001174090.1:c.2674A>C	NP_001167561.1:p.Met892Leu
NM_032034.3:c.2593A>C	NP_114423.1:p.Met865Leu
XM_005260856.3:c.2914A>C	XP_005260913.1:p.Met972Leu
XM_005260857.1:c.2488A>C	XP_005260914.1:p.Met830Leu
XM_011529383.1:c.2512A>C	XP_011527685.1:p.Met838Leu
XM_011529384.1:c.2488A>C	XP_011527686.1:p.Met830Leu
XM_011529385.1:c.2488A>C	XP_011527687.1:p.Met830Leu
XR_937167.1:n.2643A>C
NM_001363745.1:c.2431A>C	NP_001350674.1:p.Met811Leu
NR_135000.1:n.2643A>C
XM_005260856.5:c.2914A>C	XP_005260913.1:p.Met972Leu
XM_011529383.3:c.2512A>C	XP_011527685.1:p.Met838Leu
XM_017028093.1:c.2908A>C	XP_016883582.1:p.Met970Leu
XM_017028094.1:c.2488A>C	XP_016883583.1:p.Met830Leu
XM_017028096.1:c.2488A>C	XP_016883585.1:p.Met830Leu
XR_001754419.1:n.3088A>C
XR_001754420.2:n.3068A>C
NM_001174089.2:c.2545A>C MANE Select	NP_001167560.1:p.Met849Leu
NM_001363745.2:c.2431A>C	NP_001350674.1:p.Met811Leu
NM_001174090.2:c.2674A>C	NP_001167561.1:p.Met892Leu
NM_032034.4:c.2593A>C	NP_114423.1:p.Met865Leu
NM_001400277.1:c.2488A>C	NP_001387206.1:p.Met830Leu
NM_001400278.1:c.2488A>C	NP_001387207.1:p.Met830Leu
NM_001400279.1:c.2488A>C	NP_001387208.1:p.Met830Leu
NM_001400280.1:c.2560A>C	NP_001387209.1:p.Met854Leu
NR_174470.1:n.3068A>C
NR_174471.1:n.3053A>C